Detection of serum antibodies to Bartonella henselae and Coxiella burnetii from Japanese children and pregnant women

The participation of Bartonella henselae and Coxiella burnetii in the pathogenesis of fever of unknown origin (FUO) and lymphadenopathy has not been completely clarified. Prevalence of these two agents in Japanese children is also unknown. Serum IgG and IgM antibodies to B. henselae and to C. burnetii were examined by the indirect fluorescence antibody assay. Enzyme immunoassay kits were used to detect serum IgG and IgA antibodies against Chlamydia trachomatis. Out of 200 healthy normal pregnant women, two (1.0%) had serum IgG antibodies to B. henselae, four (2.0%) to C. burnetii and 49 (24.5%) to C. trachomatis. Out of 29 patients with FUO, one (3.4%) had serum IgG antibodies to B. henselae, four (13.8%) to C. burnetii and none to C. trachomatis. Out of 31 patients with cervical lymphadenopathy, three (9.6%) had serum IgG antibodies to B. henselae, two (6.5%) to C. burnetii and none to C. trachomatis. Out of 22 patients with generalized lymphadenopathy, one (4.5%) had serum IgG antibodies to B. henselae, three (13.6%) to C. burnetii and none to C. trachomatis. Prevalences of serum antibodies to C. burnetii in the patients with FUO and generalized lymphadenopathy and to B. henselae in the patients with cervical lymphadenopathy were significantly higher than those of normal pregnant women (Welch's t-test; P<0.01). These two agents may have some roles in the pathogenesis of FUO and lymphadenopathy in Japanese children.     

Waardenburg syndrome in the Turkish deaf population

Waardenburg Syndrome (WS) is an autosomal, dominantly inherited disorder that accounts for more than 2% cases of congenital deafness. The aim of this study is to determine the WS incidence among deaf pupils. Dysmorphological examination was performed on 720 children who were attending 7 special schools in Turkey and who had hearing disabilities. All subjects in the study were examined for WS diagnostic criteria. We detected 49 patients (6.8%) with WS among the 720 children examined. Six patients had WS type 1 (12.2%) and 43 had type 2 (87.8%). We observed 2 to 5 major diagnostic criteria for WS. Out of all the subjects in the study, only two patients have deaf first degree relatives. All subjects had been previously examined by physicians for deafness but none of them had been then diagnosed to have Waardenburg Syndrome. Instead, they were all misdiagnosed as to have nonsyndromic deafness. Awareness of WS diagnostic criteria by the physicans will provide accurate diagnosis for many deaf pupils and their first degree relatives who are able-to-hear WS patients and whose children are at risk for deafness.     

Determination of prevalence and economic impact of ovine footrot in central Kashmir India with isolation and molecular characterization of Dichelobacter nodosus

The present study determines the prevalence, economic impact of virulent footrot in central Kashmir, India, along with isolation and molecular characterization of Dichelobacter nodosus (D. nodosus) where so far no such work has been carried out. Over all 12.54% prevalence of footrot was recorded in central Kashmir with highest (15.84%) in district Srinagar, and least (10.89%) in district Budgam, while it was 13.28% in district Ganderbal. Overall economic impact of footrot was estimated to the tune of Rs 15.82 million annually to the sheep farming in central Kashmir. Out of 370 samples collected from footrot lesions of naturally infected sheep, 200 (54.05%) detected D. nodosus positive by polymerase chain reaction (PCR). Out of these, 132 (66.00%) samples carried serogroup B of D. nodosus, five (2.50%) serogroup E, one (0.50%) serogroup I, while, 53 (26.50%) had mixed infection of serogroups B and E, four (2.00%) of serogroups B and I, two (1.00%) of serogroups B and G and the remaining three (1.50%) samples harboured the mixed infection of serogroups B, E and I. Serogroup G was detected for the first time in India. Over all serogroup B was most frequent (97.0%) followed by E (30.5%), while serogoups I (4.0%) and G (1.0%) were least prevalent. A total of 265 D.nodosus strains were isolated out of which 194 (73.20%) were typed as serogroup B, 61 (23.01%) as serogroup E, eight (3.01%) as serogroup I and remaining two (0.75%) belonged to serogroup G. Out of 265 D. nodosus isolates, 164 (61.88%) possessed intA (integrase) gene, thus were considered as virulent strains. Serogroup wise intA gene was found in 121(62.37%) isolates of serogroup B, 36 (59.01%) of E, two (100%) of G and five (62.50%) of I. Out of 20 randomly selected isolates subjected to gelatin gel test, 16 isolates with intA gene produced thermostable protease while four isolates without intA gene revealed the production of thermolabile protease. This indicated a good co-relation between presence of intA gene and gelatin gel test in determination of the D. nodosus virulence. Thus the present investigation suggests the incorporation of serogroups B and E, based on their predominant prevalence, in the formulation of an effective bivalent vaccine to combat footrot in central Kashmir.     

Association of sex, age and ABO-Rh(D) type with unexpected antibodies among multitransfused thalassemia patients in Bikaner, Rajasthan, India

The thalassemia has become a sensitive issue for clinical and public health owing to the morbidity and mortality caused and potential risks associated with multiple transfusions. Here, a blood bank based cross sectional analytical study was carried out during the period of three months from January 2017 to March 2017, among transfusion dependent beta thalassemia major patients. ABO-Rh(D) blood grouping and screening for unexpected red cell antibodies (other than anti-A and anti-B antibodies) were performed on a Immucor Galileo Neo System (fully automated immunohematology analyzer). Out of 56 patients, 37 (66%) were males and 19 (34%) were females with a male to female ratio of 1.95:1. Two cases (3.6%) were detected positive by antibody screening. Alloimmunization was statistically analyzed on the basis of age, sex and subjects'' ABO-Rh blood group. This study underlines the need for unexpected antibody screening among thalassemic patients receiving blood transfusion therapy.     

Coenzyme Q de quelques espèces du genre Pichia

A survey was carried out on the distribution of ringworm infections among school children in four primary schools in Jos, Plateau State of Nigeria. Out of a total population of 6 987, 237 (3.4%) were found to be infected by this disease. There was a high incidence of both scalp and foot ringworms among the infected children. Fourteen species of dermatophytes were isolated from the ringworm cases. The scalp ringworm had the highest number of fungal isolates. Trichophyton mentagrophyte and T. rubrum had the highest frequencies of occurrence. Some of the infected children were found to have nomadic parents who moved about with cattle.     

Bone mineralization and physical development of children

A cross-sectional study of BMD and physical development values in children of various age-specific groups was carried out. In all, the study included 357 children (194 boys and 163 girls) aged from 5 to 16 years. The study did not include children with inherited or acquired diseases of the musculoskeletal system, chronic diseases of the liver or kidneys, diabetes, thyrotoxicosis or malabsorption syndrome or professional athletes. BMD values were estimated by dual X-ray absorbtiometry (DXA) of the lumbar part of the spine (L2-L4) using a "DPX-MD+" device equipped with a "child" software program. Out of all the examined children, 58.9% had harmonic physical development, and 13.1% had a decreased body height and body mass. It was revealed that BMC and BMD values in the lumbar part of the spine intensively increased with age. BMC closely correlates with body height (r = 0.8; p < 0.000) and body mass (r = 0.7; p < 0.000). BMD also correlates with anthropometric parameters. The lowest BMC and BMD values and Z-score as well can be found in children with a low body height and body mass (<10th percentile).     

Vitamin D Deficiency in Children with a Chronic Illness–Seasonal and Age-Related Variations in Serum 25-hydroxy Vitamin D Concentrations

Introduction

Children and adolescents with a chronic illness have potential risk factors for vitamin D deficiency. An optimal vitamin D status might have multiple health effects. This study evaluated vitamin D status and its association with age, gender, and season in a large cohort of chronically ill Finnish patients at a tertiary pediatric outpatient clinic. A cross-sectional register-based study was carried out, involving altogether 1351 children (51% boys, age range 0.2–18 years), who visited the outpatient clinic during 2007–2010 and had their vitamin D status (S-25-OHD) determined. A post-doc analysis was conducted to identify predisposing and preventing factors for vitamin D deficiency.

Results

Almost half (47%) of the S-25-OHD values were consistent with subnormal vitamin D status (S-25-OHD <50 nmol/L) while only 12% were >80 nmol/L. Age and season were the most important determinants for S-25-OHD concentration. Mean S-25-OHD concentration differed between age groups (Kruskal-Wallis; p<0.001), adolescents being at highest risk for vitamin D insufficiency. Young age and vitamin D supplementation were preventive factors for deficiency, while non-Finnish ethnic background was a predisposing factor. S-25-OHD showed significant seasonal variation in children older than 6 years. In the whole cohort, S-25-OHD was on average 13 nmol/L higher in summer than in winter, and the prevalence of vitamin D deficiency ( =  S-25-OHD <37.5 nmol/l) varied from 11% in summer to 29% in winter.

Conclusions

The finding that almost half of the studied Finnish children with a chronic illness had suboptimal vitamin D status is alarming. Inferior vitamin D status was noted in adolescents compared with younger children, suggesting that imbalance between intake and requirement evolves with age. Although less common during summer, subnormal vitamin D status was still observed in 28% of those evaluated in summer. Clinicians should identify individuals at risk and actively recommend vitamin D supplementation.     

Cryptococcosis in Colombian children and literature review

Cryptococcosis is reported in adults and is often acquired immune deficiency syndrome (AIDS)-associated; however, its frequency in children is low. Based on the National Survey on Cryptococcosis conducted in Colombia, an epidemiological and clinical analysis was performed on cases of the disease observed in children less than 16 years old between 1993-2010. We found 41 affected children (2.6% prevalence) from the 1,578 surveys received. The country mean annual incidence rate was 0.017 cases/100,000 children under 16 years, while in Norte de Santander the incidence rate was 0.122 cases/100,000 (p < 0.0001). The average age of infected children was 8.4 and 58.5% were male. In 46.3% of cases, a risk factor was not identified, while 24.4% had AIDS. The most frequent clinical manifestations were headache (78.1%), fever (68.8%), nausea and vomiting (65.6%), confusion (50%) and meningeal signs (37.5%). Meningitis was the most frequent clinical presentation (87.8%). Amphotericin B was given to 93.5% of patients as an initial treatment. Positive microbiological identification was accomplished by India ink (94.7%), latex in cerebrospinal fluid (100%) and culture (89.5%). Out of 34 isolates studied, Cryptococcus neoformans var. grubii (VNI 85.3%, VNII 8.8%) was isolated in 94.1% of cases and Cryptococcus gattii (VGII) was isolated in 5.9% of cases. These data are complemented by a literature review, which overall suggests that cryptococcosis in children is an unusual event worldwide.     

Misdiagnosis and delayed diagnosis in traumatic intracranial haematoma.

Out of 51 patients with traumatic intracranial haematoma admitted to a teaching hospital 11 (22%) died undiagnosed, and out of 307 such patients transferred to the West of Scotland Regional Neurosurgical Centre 111 (36%) had been deteriorating for more than 12 hours in another hospital. In two-thirds of these cases the delay was due to an erroneous diagnosis, either of cerebrovascular accident or of alcoholic intoxication.     

Isolation and characterization of enteroaggregative,enterotoxigenic, diffusely adherent <Emphasis Type="Italic">Escherichia coli</Emphasis> and <Emphasis Type="Italic">Salmonella</Emphasis> Worthington from human diarrhoeic faecal samples in Kashmir and Secunderabad,India

Seven hundred and thirty-five diarrhoeic faecal samples from children were investigated for presence of enteroaggregative E. coli (EAEC), enterotoxigenic E. coli (ETEC), diffusely adherent E. coli (DAEC) and Salmonella spp. by polymerase chain reaction (PCR) and bacterial culture. Out of 675 samples from Kashmir, 55 isolates were obtained, which carried at least one virulence gene studied. Out of the 55 isolates, 36 (65.45%) were EAEC, 18 (32.72%) were ETEC while only one isolate (1.81%) was DAEC. All the EAEC isolates were found to be typical as they possessed aggR gene. Six (16.66%) EAEC isolates carried the astA gene. Out of the 18 ETEC isolates, 13 carried the elt gene alone, four possessed both the elt and est genes and the remaining one harboured the est gene alone. Five ETEC isolates also possessed astA gene. Nineteen EAEC isolates belonged to 10 different serogroups. Serogroup O153 was most frequent. The ETEC isolates also belonged to 10 different serogroups of which O159 was most predominant. Out of 224 E. coli isolates from 60 samples of Secunderabad, 27 isolates carried at least one virulence gene. Out of 27 isolates 22 (81.48%) were typical EAEC, three (11.11%) were ETEC and two (7.4%) were DAEC. Fifteen EAEC isolates belonged to seven different serogroups with O86 as most frequent. Four EAEC isolates also possessed the astA gene. All the three ETEC isolates harboured elt gene only and belonged to three different serogroups. Two isolates of Salmonella Worthington were obtained from only two samples in Kashmir.     

Evaluation of postvaccinal pertussis immunity by using immunoenzyme analysis

The effectiveness of adsorbed DPT vaccine manufactured in the USSR, evaluated by its capacity of inducing the formation of the main classes of immunoglobulins and by the duration of immune response to the acellular complex of protective antigens (pertussis toxin and agglutinogen-2), was studied with the use of modified EIA. Out of 273 children immunized with adsorbed DPT vaccine in the course of this study, 87.2% had IgG-antibodies, 14.1% had IgA-antibodies and 3.2% of the children had IgM-antibodies. The level of immunity in children having received the full course of immunization with adsorbed DPT vaccine was significantly higher in comparison with children given only the primary course of immunization and nonimmunized children of the same age. Antipertussis immunity was found to decrease two years after the completion of the course of immunization with adsorbed DPT vaccine and in children over 5-6 years of age. Adsorbed DPT vaccine prevented the disease, but not infection. The level of postinfection immunity was higher than that of postvaccinal immunity.     

染色体多态性与临床效应及生殖关系的探究

为了探讨人类染色体结构多态性与生殖异常临床效应的关系,按常规技术方法制备外周血淋巴细胞染色体,经G、C显带,对1 414例遗传咨询者进行核型分析,检出异常核型273例。其中多态性变异180例,占65.93%,非多态性异常核型93例,占34.07％。多态性变异包括D、G组短臂增长10例,次缢痕增长(包括1、9和16号染色体)35例,大Y染色体和小Y染色体 99例,Y染色体臂间倒位6例,9号染色体臂间倒位30例。结果表明,人类染色体多态性与流产、不孕不育、死胎、生育畸形儿等有相关性。     

Parvovirus B19 antibodies and correlates of infection in pregnant women attending an antenatal clinic in central Nigeria

Human parvovirus B19 infection is associated with spontaneous abortion, hydrops foetalis, intrauterine foetal death, erythema infectiosum (5th disease), aplastic crisis and acute symmetric polyarthropathy. However, data concerning Nigerian patients with B19 infection have not been published yet. The purpose of this study was to establish the prevalence of B19 IgG and IgM antibodies, including correlates of infection, among pregnant women attending an antenatal clinic in Nigeria. Subsequent to clearance from an ethical committee, blood samples were collected between August-November 2008 from 273 pregnant women between the ages of 15-40 years who have given their informed consent and completed self-administered questionnaires. Recombinant IgG and IgM enzyme linked immunosorbent assay kits (Demeditec Diagnostics, Germany) were used for the assays. Out of the 273 participants, 111 (40.7%) had either IgG or IgM antibodies. Out of these, 75 (27.5%) had IgG antibodies whereas 36 (13.2%) had IgM antibodies, and those aged 36-40 years had the highest prevalence of IgG antibodies. Significant determinants of infection (p < 0.05) included the receipt of a blood transfusion, occupation and the presence of a large number of children in the household. Our findings have important implications for transfusion and foeto-maternal health policy in Nigeria. Routine screening for B19 IgM antibodies and accompanying clinical management of positive cases should be made mandatory for all Nigerian blood donors and women of childbearing age.     

Pneumococcal serotypes in various diseases of children

The serotyping of pneumococci isolated from different material obtained from children aged 0 to 11 years was carried out. Out of 156 patients with different diseases, hospitalized in two clinics in Moscow during February-May 1983, pneumococci were isolated from 67 patients (43%). The isolated pneumococcal strains belonged to 11 serotypes. Pneumococci of serotypes 3, 6, 9 and 19 were shown to occur most frequently in different diseases and constituted 50% of the isolated strains. The inoculation of the material by the quantitative method permitted the authors to find out the role of pneumococci as the etiological factor in the pathogenesis of some diseases. A certain dependence of diversity in the types of isolated pneumococci on the age of sick children was noted. Almost all isolated strains were found to be sensitive to penicillin, ampicillin and benzylpenicillin. But a few individual strains were sensitive only to one of these antibiotics. The data on some biological properties of pneumococci cultivated on solid culture media are presented.     

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

PURPOSE: Historically, cancer predisposition syndromes (CPSs) were rarely established for children with cancer. This nationwide, population-based study investigated how frequently children with cancer had or were likely to have a CPS. METHODS: Children (0–17 years) in Denmark with newly diagnosed cancer were invited to participate in whole-genome sequencing of germline DNA. Suspicion of CPS was assessed according to Jongmans’/McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) criteria and familial cancer diagnoses were verified using population-based registries. RESULTS: 198 of 235 (84.3%) eligible patients participated, of whom 94/198 (47.5%) carried pathogenic variants (PVs) in a CPS gene or had clinical features indicating CPS. Twenty-nine of 198 (14.6%) patients harbored a CPS, of whom 21/198 (10.6%) harbored a childhood-onset and 9/198 (4.5%) an adult-onset CPS. In addition, 23/198 (11.6%) patients carried a PV associated with biallelic CPS. Seven of the 54 (12.9%) patients carried two or more variants in different CPS genes. Seventy of 198 (35.4%) patients fulfilled the Jongmans’ and/or MIPOGG criteria indicating an underlying CPS, including two of the 9 (22.2%) patients with an adult-onset CPS versus 18 of the 21 (85.7%) patients with a childhood-onset CPS (p = 0.0022), eight of the additional 23 (34.8%) patients with a heterozygous PV associated with biallelic CPS, and 42 patients without PVs. Children with a central nervous system (CNS) tumor had family members with CNS tumors more frequently than patients with other cancers (11/44, p = 0.04), but 42 of 44 (95.5%) cases did not have a PV in a CPS gene. CONCLUSION: These results demonstrate the value of systematically screening pediatric cancer patients for CPSs and indicate that a higher proportion of childhood cancers may be linked to predisposing germline variants than previously supposed.     

Clinical Significance of Skin Reactions to Mite Extracts in Children with Asthma

The mite Dermatophagoides pteronyssinus has been identified in dust from the houses of children in Birmingham suffering from asthma. Skin tests were carried out on 150 asthmatic children with extracts of D. pteronyssinus, of the related species D. farinae, of other mites found in house dust, and of crude house dust. Though positive reactions to D. pteronyssinus were obtained more frequently and were of greater size than those to the other extracts, it was considered that D. farinae is a suitable substitute for D. pteronyssinus for skin testing.In further tests on 302 asthmatic children with mite extracts and with extracts of allergens obtained commercially reactions to the former extracts were much more common than reactions to the latter.Major skin reactions (weals with diameter of 5 mm. or more) were present in 77% of children with a history of perennial asthma and house-dust sensitivity. Hence allergy to house-dust mites, particularly D. pteronyssinus, is of considerable importance in childhood asthma, and further study of the ecology and control of the mites in dust is desirable.     

Characterization of the immune status of patients with vaccine-associated poliomyelitis

Specific humoral immunity, total immune status and typing of HLA antigens, class 1, in loci A and B were studied in children with vaccine-associated paralytic poliomyelitis (VAPP). The immune status investigation revealed that changes in the content of serum immunoglobulins were most frequent. Out of 8 examined children, 5 children had IgA deficiency and 1 child had total variable immunodeficiency. In one case disturbances in cell-mediated immunity prevailed. Tissue typing revealed the presence of HLA A2 and B44 in 5 out of 6 examined children, which considerably exceeded their average occurrence among the Belorussian population. In spite of frequent detection of immunological disturbances in VAPP patients, out of 38 serologically examined children 36 (95%) were found to have virus-neutralizing serum antibodies to poliovirus, which was indicative of the capacity of their immune system for response to the administration of vaccine virus. To minimize the risk of VAPP in children and to achieve the goal of poliomyelitis eradication the combined immunization scheme consisting of 1-3 vaccinations with inactivated poliovaccine with subsequent administration of oral vaccine prepared from attenuated Sabin viruses is regarded as most promising.     

Blastocystis hominis: frequency of infection in ambulatory patients from the northern section of Santiago, Chile]

In July 1989-July 1990 period, a coproparasitological study of 6,162 ambulatory patients from the northern section of Santiago, was undertaken. Out of the total number of the studied individual, 88.6% were children, (51.4% females and 48.6% males). The global frequency of infection by B. hominis was 30.4%. In relation to age. Blastocystis hominis was found in: 13.1% of the group of children (1 month-2 years); 34.1% of the pre-school children, 45.4% in the school-children and 43.0% in the adults. B. hominis was frequently detected in association with other parasites and/or commensals, and observed alone in the 6.0% of the studied patients.     

Nasal carriage of methicillin resistant Staphylococcus aureus and their antibiotic susceptibility patterns in children attending day-care centers

Nasal colonization with community acquired methicillin resistant Staphylococcus aureus (CA-MRSA) is being increasingly reported, especially in places where people are in close contact and in reduced hygiene, such as day-care centers. In this study we investigated the frequency of MRSA colonization and their antibiotic susceptibility patterns in 1-6 years old children of day-care centers in Hamadan, West of Iran.Five hundred nasal swabs were collected from children of 27 day-care centers that had no risk factors for colonization by S. aureus. The specimens were cultured for isolation of S. aureus by standard methods. Antimicrobial susceptibility testing was performed according to the Clinical and Laboratory Standards Institute (CLSI) guidelines. For evaluation of the frequency of erythromycin induced clindamycin resistance, disk approximation test (D-test) was applied.Totally, 148 (29.6%) children were colonized by S. aureus. Out of 260 male, 94 (36.2%) and of 240 female, 54 (22.5%) cases were nasal carriers of S. aureus (P value = 0.001). Six (4.1%) of the 148 S. aureus isolated from children were MRSA strains. None of MRSA and methicillin susceptible S. aureus (MSSA) was resistant to vancomycin and clindamycin. Three of the 6 strains of MRSA and 7 (4.9%) of the 142 MSSA strains were resistant to erythromycin, and D-test was positive in all of them.We conclude that the rate of colonization by S. aureus is high in children attending day-care centers but colonization with MRSA is not common in our areas. Clindamycin or trimethoprim-sulfamethoxazol could be used in mild to moderataly severe diseases caused by CA-MRSA. However, if the CA-MRSA isolates are erythromycin resistant, D-test should be carried out for detection of inducible clindamycin resistance.     

Fortpflanzungsfähigkeit,Heiratshäufigkeit und Zahl und Beschaffenheit der Nachkommen bei Patienten mit Spina bifida aperta

Zusammenfassung Es wird über 32 erwachsene Patienten mit Spina bifida aperta berichtet. Von 26 lebenden Patienten (9 männlich, 17 weiblich; sämtlich über 30 Jahre alt) wurden 23 persönlich und 3 brieflich befragt.9 von 10 Patientinnen und 6 von 7 Patienten gaben keinerlei Störung der Sexualfunktion an. 1 Patientin berichtete über sehr starke Regelblutungen, 1 Patient litt an einer herabgesetzten Potenz mit linksseitigem Leistenhoden und nachgewiesener Sterilität.Von den 17 weiblichen und 9 männlichen Patienten sind jeweils 7 verheiratet. In 14 Ehen mit einem kranken Partner wurden 29 Schwangerschaften ausgetragen, aus denen 24 lebend-und 5 totgeborene Kinder hervorgingen. Die durchschnittliche Zahl lebender Kinder liegt bei den verheirateten Patienten mit 1,5 um etwa ein Drittel niedriger als bei den verheirateten Geschwistern der Patienten mit 2,2. Von 29 Kindern verheirateter Patienten waren zwei Geschwister befallen, das eine mit Anencephalie, das andere mit Spina bifida aperta und Hydrocephalus. Hieraus läßt sich ein Wiederholungsrisiko von 7% schätzen.Nur 2 von 25 Patienten konnten sich unter einer genetischen Beratung etwas Genaueres vorstellen. 7 der 14 verheirateten Patienten hatten ihren Hausarzt nach dem Risiko für ihre Kinder gefragt.Die Befunde werden auf dem Hintergrund der festgestellten körperlichen Behinderung unter besonderer Berücksichtigung der genetischen Beratung diskutiert.

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Reproductive capacity, frequency of marriage, and number and quality of children in patients with spina bifida aperta

Summary This is a report on 32 adult patients with spina bifida aperta. Out of 26 living patients (9 males, 17 females; all older than 30 years) 23 have been personally interviewed, the remaining 3 received a questionnaire by mail.9 of 10 female and 6 of 7 male patients mentioned no disorders of sexual function. 1 female patient reported very strong bleedings during menstruation, 1 male patient suffered from a reduced potentia coeundi, combined with retention of left testis and proven infertility.Out of 17 female and 9 male patients 14 are married, 7 in each group. In the marriages of 14 patients 29 pregnancies have been brought to term, resulting in 24 live-born and 5 still-born children. The average number of living children per married patient is 1.5. This is about one third lower than the corresponding value of 2.2 for the married sibs of the patients. Out of 29 children of married patients two sibs were affected, one with anencephaly, the other with spina bifida aperta and hydrocephalus. From this a recurrence risk of 7% can be estimated.Only 2 of 25 patients had a clear notion of genetic counseling. 7 of 14 married patients had asked their family doctor about the risk for their children.The findings are discussed on the basis of the observed physical handicaps under special consideration of genetic counseling.

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Die Untersuchungen wurden mit Unterstützung durch die Deutsche Forschungsgemeinschaft durchgeführt.

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Direktor: Prof. Dr. med. Dr. h. c. W. Lenz