Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy

Summary X-linked DNA markers were used to determine the parental origin of the additional sex chromosomes in eight individuals with sex chromosome tetrasomy or pentasomy. In all cases studied, one parent contributed a single sex chromosome while the other parent contributed three or four sex chromosomes. Thus, it seems likely that most, if not all, sex chromosome tetrasomy and pentasomy is attributable to successive nondisjunctional events involving the same parent.     

Syndrome X: case report.

Transmural myocardial infarction occurred in a 48-year-old woman with syndrome X -- atypical angina pectoris and angiographically normal coronary arteries. Before the infarction her electrocardiogram had been normal at rest but showed ischemia after exercise. Angiography 3 months after infarction revealed a normal coronary tree but hypokinesia of the posterior left ventricular wall.     

Pericentric inversion of the X chromosome: presentation of a case and review of the literature.

A large pericentric inversion of the X chromosome [inv(X)(p22.31q26.3)] was found to be transmitted in four generations through phenotypically normal males and females. In one female carrier, the inv(X) was late replicating in 70% of lymphocytes and 46% of skin fibroblasts. Steroid sulfatase (STS), an enzyme which normally escapes inactivation has been located to Xp22.32 and, in our case, has been moved to an aberrant position. We have assayed its activity in clones with the inv(X) inactive or the normal X inactive and found no significant differences. Thus, the STS locus escaped X inactivation in both the normal and the inverted X chromosomes. A review of the literature shows that almost half of the breakpoints on the short arm are found at region p22 and we propose that low-copy repetitive DNA segments along the X chromosome are responsible for non-homologous pairing and production of inversions.     

Fatigue sacral fractures: A case series and literature review

Objectives:Fatigue sacral fractures (FSFs) are rare and often misdiagnosed. This study presents a series of FSFs and a meticulous literature review.Methods:The present is an 11-year (2010-2021) retrospective observational study. The characteristics of all adult patients with FSF, including demographics, fracture type, treatment, history of fatigue fracture and imaging were evaluated.Results:Eight cases (6 females; 75%), suffering from 12 fractures (4 bilateral cases) with mean age=33.4 years were studied. Two patients (25%) had suffered another fatigue fracture in the past. Mean symptoms’ duration prior diagnosis was 8.5 weeks, while mean symptoms’ duration after diagnosis was 10.75. In most cases (7; 87.5%), MRI revealed the fracture. According to the Kaeding-Miller classification; five fractures (42%) were grade III, four (33%) IV and three (25%) II. All patients were treated conservatively, with rest and analgesics, while three received vitamin D and calcium. One patient, due to delayed union, was commenced on teriparatide.Conclusions:FSFs are often misdiagnosed; therefore, they should be included in the differential diagnosis for chronic low back-or-hip pain in athletes. History of other fatigue injuries seems to be a predisposing factor. It is of paramount importance to obtain advanced imaging for identifying a FSF.     

Rhinosporidiosis in Egypt: A case report and review of literature

Rhinosporidiosis is an infection caused by Rhinosporidium seeberi that frequently presents as a polypoidal nasal lesions. Here, we report the first indigenous case of tumoral rhinosporidiosis in Egypt. In this case, a 25-year-old male patient from a rural background of Assuit City presented with epistaxis and a nasal polyp. The patient had not traveled abroad. The diagnosis was established on the morphological basis by the identification of 5- to 10-m endospores and 50- to 1000-m sporangia. The clinicopathological and immunologic features were discussed and the literature was reviewed. To the best of our knowledge this is the first case of this disease to be reported in Egypt in the human literature.     

Nasopharyngeal mucoepidermoid carcinoma: A case report and review of literature

Background

Salivary gland-type tumors originating in the nasopharynx are rare, and only a few articles about mucoepidermoid carcinomas (MEC) in this location have been reported. We describe one case of nasopharyngeal MEC and, based on a review of the literature, discuss different therapeutic approaches that can be taken regarding the result of histological findings, radiological tests and extent of disease.

Case presentation

A 47-year-old woman diagnosed with mucoepidermoid carcinoma of nasopharynx, T1 N3 M0 (stage IV-B) was treated in 2007 with a combination of radiotherapy and chemotherapy to a maximum dose of 70 Gy and concomitant Cisplatin during the radiation. One year later, with the head and neck disease under control, mediastinal nodes relapse appeared which were treated with exclusive radiotherapy to a maximum dose of 65 Gy. One year after the first relapse, a second relapse was detected in the right lung, next to the previously treated mediastinal regions, and the patient initiated a treatment with exclusive chemotherapy based on TPF scheme.

Conclusion

For limited or resectable MEC, combined surgery with radiotherapy, or radiochemotherapy, should be considered the main treatment policy. On the other hand, in poorly differentiated, unresectable tumors or nasopharyngeal MEC, radiochemotherapy could be currently the main treatment approach.     

A review of trisomy X (47,XXX)

A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypoglycemic, fell into coma, developed seizures and sequels involving right hemi-body. Urinary excretion of hexanoylglycine and suberylglycine was low during this metabolic decompensation. A study of pre- and post-prandial blood glucose and ketones over a period of 24 hours showed a normal glycaemic cycle but a failure to form ketones after 12 hours fasting, suggesting a mitochondrial β-oxidation defect. Total blood carnitine was lowered with unesterified carnitine being half of the lowest control value. A diagnosis of mild MCAD deficiency (MCADD) was based on rates of 1-¹⁴C-octanoate and 9, 10-³H-myristate oxidation and of octanoyl-CoA dehydrogenase being reduced to 25% of control values. Other mitochondrial fatty acid oxidation proteins were functionally normal. De novo acylcarnitine synthesis in whole blood samples incubated with deuterated palmitate was also typical of MCADD. Genetic studies showed that the patient was compound heterozygous with a sequence variation in both of the two ACADM alleles; one had the common c.985A>G mutation and the other had a novel c.145C>G mutation. This is the first report for the ACADM gene c.145C>G mutation: it is located in exon 3 and causes a replacement of glutamine to glutamate at position 24 of the mature protein (Q24E). Associated with heterozygosity for c.985A>G mutation, this mutation is responsible for a mild MCADD phenotype along with a clinical story corroborating the emerging literature view that patients with genotypes representing mild MCADD (high residual enzyme activity and low urinary levels of glycine conjugates), similar to some of the mild MCADDs detected by MS/MS newborn screening, may be at risk for disease presentation.     

Individual and community factors determining delayed leprosy case detection: A systematic review

BackgroundThe number of new leprosy cases is declining globally, but the disability caused by leprosy remains an important disease burden. The chance of disability is increased by delayed case detection. This review focusses on the individual and community determinants of delayed leprosy case detection.MethodsThis study was conducted according to the PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-Analysis). The study protocol is registered in PROSPERO (code: CRD42020189274). To identify determinants of delayed detection, data was collected from five electronic databases: Embase.com, Medline All Ovid, Web of Science, Cochrane CENTRAL, and the WHO Global Health Library.ResultsWe included 27 papers from 4315 records assessed. They originated in twelve countries, had been published between January 1, 2000, and January 31, 2021, and described the factors related to delayed leprosy case detection, the duration of the delayed case, and the percentage of Grade 2 Disability (G2D). The median delay in detection ranged from 12 to 36 months, the mean delay ranged from 11.5 to 64.1 months, and the percentage of G2D ranged from 5.6 to 43.2%. Health-service-seeking behavior was the most common factor associated with delayed detection. The most common individual factors were older age, being male, having a lower disease-symptom perception, having multibacillary leprosy, and lack of knowledge. The most common socioeconomic factors were living in a rural area, performing agricultural labor, and being unemployed. Stigma was the most common social and community factor.ConclusionsDelayed leprosy case detection is clearly correlated with increased disability and should therefore be a priority of leprosy programs. Interventions should focus on determinants of delayed case detection such as health-service-seeking behavior, and should consider relevant individual, socioeconomic, and community factors, including stigmatization. Further study is required of the health service-related factors contributing to delay.     

Biopsy proven metastatic meningioma: A case report and review of the literature

Meningiomas are the most common type of benign tumor found in the brain and are typically benign, slow-growing lesions. The current standard of care consists of surgical resection and subsequent postoperative radiotherapy to prevent local recurrence. Because of their indolent nature, meningiomas are rarely found to spread extracranially and develop distant metastases. We present the clinical, imaging, and pathologic features of a patient who had meningioma with multiple local recurrences, who was incidentally found to have metastatic disease in the lungs. In addition, we discuss details of this case in the context of the previously reported literature.     

Active case detection methods for crusted scabies and leprosy: A systematic review

BackgroundCrusted scabies is endemic in some remote Aboriginal communities in the Northern Territory (NT) of Australia and carries a high mortality risk. Improvement in active case detection (ACD) for crusted scabies is hampered by a lack of evidence about best practice. We therefore conducted a systematic review of ACD methods for leprosy, a condition with similar ACD requirements, to consider how findings could be informative to crusted scabies detection.Methods and principle findingsWe conducted systematic searches in MEDLINE, CINAHL, Scopus and the Cochrane Database for Systematic Reviews for studies published since 1999 that reported at least one comparison rate (detection or prevalence rate) against which the yield of the ACD method could be assessed. The search yielded 15 eligible studies from 511. Study heterogeneity precluded meta-analysis. Contact tracing and community screening of marginalised ethnic groups yielded the highest new case detection rates. Rapid community screening campaigns, and those using less experienced screening personnel, were associated with lower suspect confirmation rates. There is insufficient data to assess whether ACD campaigns improve treatment outcomes or disease control.ConclusionThis review demonstrates the importance of ACD campaigns in communities facing the highest barriers to healthcare access and within neighbourhoods of index cases. The potential benefit of ACD for crusted scabies is not quantified, however, lessons from leprosy suggest value in follow-up with previously identified cases and their close contacts to support for scabies control and to reduce the likelihood of reinfection in the crusted scabies case. Skilled screening personnel and appropriate community engagement strategies are needed to maximise screening uptake. More research is needed to assess ACD cost effectiveness, impact on disease control, and to explore ACD methods capable of capturing the homeless and highly mobile who may be missed in household centric models.     

Trisomy 5p. A case report and review

Trisomy 5p is a clinically discernable syndrome with characteristic clinical features. To date more than 40 patients with trisomy for various regions of short arm of chromosome 5 have been reported. Here we report a case with complete trisomy 5p and present a review of the literature.     

Cold urticaria: case series and literature review

Cold urticaria is one of the five most common causes of chronic urticaria and is grouped as a physical urticaria. It can occur after exposure to cold, either through solid objects, air or liquids. Patients may have symptoms of urticaria, angioedema, respiratory distress and even anaphylaxis when the skin is exposed to a cold environment, such as handling refrigerated objects, swimming in cold water or entering an air-conditioned room. Five cases of cold urticaria are presented, followed by a brief literature review.     

Intelligence and the fra(X) syndrome: a review.

In this paper we review the data on intelligence in fra(X) males reported up to now in the literature, with special attention to its evolution with age. The available data suggest a decline in intellectual functioning in relation to age. These findings, however, should be interpreted with caution because of sampling and other methodological problems related with the fra(X) screening procedures and programs in general.     

Woodhouse-Sakati syndrome: case report and symptoms review

We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.     

A case report of Turner's syndrome with ring X chromosome.

A case of Turner's syndrome with short stature and 45, XO/46, XXr mosaicism in chromosome study was presented. With special emphasis on endocrinological study, the size of the breasts was normal in contrast to the poor development of the breasts in most of types of Turner's syndrome. She showed normal thyroid function, slightly low level of urinary 17-OHCS, decreased 17-KS, poor response in metopirone test and poor response of HGH to insulin.     

A new case of Y to X translocation in a female

Summary Cytogenetic investigation of married couples with the history of two or more recurrent abortions or unsuccessful pregnancies was carried out. The study concerns the occurrence of reciprocal translocations in regard to spontaneous miscarriages. In 115 examined couples 9 reciprocal translocations were observed, i.e., in 7.8%.