Oculo-facio-cardio-dental syndrome in a girl and her mother

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.     

Ring chromosome 15 in a mother and her children

Summary A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested.     

Report of two cases with Van der Woude syndrome: a child and her mother

Report of two cases with Van der Woude syndrome: a child and her mother: Congenital pits of the lower lip are rare malformations. They are closely associated with cleft lip (CL), cleft lip/palate (CL/CP) or isolated cleft palate (CP) and if so this condition is known as Van der Woude syndrome, which is inherited in an autosomal dominant fashion with high penetrance. Two individuals, one with lower lip pits and cleft palate and the other with isolated lower lip pit from the same family are described. Autosomal dominant pattern of inheritance was observed in this family and treatment consisted of complete removal of sinus tracts in one patient. Pathological features of sinus tracts consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue. Importance of genetic counseling is emphasized as at least half of gene carriers have some kind of clefting.     

Drugs in pregnancy: the effects on mother and her progeny

Drug abuse during pregnancy is a growing problem in all developed countries all over the world. The drugs easily cross the placental barrier into the fetal body and are present also in the maternal milk. Therefore, it may affect the development of the child pre- as well as postnatally. The effects of prenatal drug exposure are long-lasting and persist until adulthood. The present review summarizes the clinical and experimental evidence showing how opioids and psychostimulants can affect maternal behavior of drug-abusing mother and the development of their offspring.     

Behavioral response of a chimpanzee mother toward her dead infant

The mother-offspring bond is one of the strongest and most essential social bonds. Following is a detailed behavioral report of a female chimpanzee 2 days after her 16-month-old infant died, on the first day that the mother is observed to create distance between her and the corpse. A series of repeated approaches and retreats to and from the body are documented, along with detailed accounts of behaviors directed toward the dead infant by the mother and other group members. The behavior of the mother toward her dead infant not only highlights the maternal contribution to the mother-infant relationship but also elucidates the opportunities chimpanzees have to learn about the sensory cues associated with death, and the implications of death for the social environment.     

Observation of a wild Japanese macaque mother pacifying her distressed infant with an acorn

This is the first report on an observation of food transfer by a mother to her offspring in wild Japanese macaques (Macaca fuscata yakui). On November 6, 1996, an adult female wild Japanese macaque stopped grooming her 1.5–1.6 yr old daughter in order to be groomed by a young male. Her daughter protested loudly for about 1 min. In response to her daughter's protest, the mother picked up a mature nut ofQuercus phillyraeoides that was lying near her right hand, and placed it in the daughter's mouth. The daughter's cries were immediately muffled and she silently ate the acorn's contents, and spat out the pericarp. We inferred that the daughter wanted to be groomed by her mother, not to receive food. This reported example of treatment resembling tool using behavior in response to an emotional outcry was precipitated by mother-offspring conflict in the natural habitat.     

Is there a connection between a woman's fecundity and that of her mother?

Data on the fertility of mothers and daughters in 10,931 mother-daughter pairs were obtained from family reconstitution studies based on English parish registers between the 16th and 19th centuries. This paper seeks to evaluate the proposition that more fecund mothers tend to have more fecund daughters. There seems to be no association between the fertility of daughters and that of their mothers; however, the correlation coefficient apparently indicates a very small, yet significant, positive association. This small positive association between the fertility of daughters and that of their mothers in the whole sample is due entirely to the situation in 1 parish. A woman's fertility might depend on her husband's biological characteristics as well as her own. Thus, the finding here is not only that there is no association between the fecundity of daughters and that of their mothers but none between that of daughters and fathers either.     

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

X-linked recessive myotubular myopathy (XLMTM) is a muscle disorder usually affecting newborn males. In the majority of cases, muscle weakness and hypotonia lead to a rapid demise at neonatal age. The responsible MTM1 gene is located in proximal Xq28. Heterozygous carriers are described as being asymptomatic but, in a few cases, mild facial weakness has been reported. We report a family in which a 39-year old female showed severe progressive muscle weakness. XLMTM was initially diagnosed in the male offspring of one of the patient’s sisters. The patient, one of her sisters, and their mother were heterozygous carriers for a common MTM1 gene mutation. We found an extremely skewed X-inactivation pattern in the patient and, in the opposite direction, in her non-manifesting carrier mother, thus explaining her normal phenotype and indicating a possible inheritance of skewed X-inactivation. Linkage analysis excluded a possible involvement of the XIST locus at Xq13. Received: 2 November 1998 / Accepted: 7 January 1999     

Social integration of a bonobo mother and her dependent daughter into an unfamiliar group

In the present study, we obtained quantitative behavioral data on the integration process of an adult female with her dependent daughter into a resident zoo population of six bonobos (Pan paniscus). During the whole observation time of almost two months, the integration happened very peacefully without significant increases of aggressive or agonistic tendencies. The integration was mediated and actively supported mainly by two processes: contacts of resident infants and juveniles towards the immigrating animals and contacts of the immigrating adult female to a “specific senior female” of the resident group. Adult males and adolescent females seemed not to play a role in the social integration of new group members. The new adult female soon became a preferred partner for sexual interactions such as genito-genital rubbing. The social integration of the 18-month-old young was controlled by her mother and finished only after the adult female had reached a stable and safe position in the new group. According to our observations, the exchange of an adult female bonobo including her young between zoos has no negative effects on the animals involved.     

Use of temperature telemetry to monitor ingestion by a harbour seal mother and her pup throughout lactation

The applicability of using stomach temperature telemetry to detect and estimate milk intake throughout lactation was investigated in harbour seals (Phoca vitulina). Observations of a mother-pup pair were conducted daily while stomach temperature was concurrently logged. Milk intake caused a decrease in the pup's stomach temperature. The duration of stomach temperature change was related to the length of the nursing bout (r ²=0.82, P<0.001). Laboratory stomach simulations suggested a strong relationship between milk volume and duration of temperature change (r ²=0.98, P<0.001). This relationship was used to estimate the volume of milk consumed by the pup. Suckling bout length and the estimated milk intake per bout increased, as a weekly average, with pup age (one-way ANOVA; F _3.67=11.66, P<0.001) over the 5-week lactation period. A diel change in nursing time was noted, with a transition from largely nocturnal to daytime feedings. Although not visually confirmed, stomach temperature data collected from the mother provided evidence of seawater ingestion. Methods that could improve estimates of milk intake are discussed. Stomach temperature telemetry proved to be a useful technique for detecting ingestion events in harbour seals, and may provide a valuable tool for investigating lactation energetics and aspects of maternal investment in a variety of nursing species.     

Inspiratory pressure generation: comparison of subjects with COPD and age-matched normals

We continuously monitored esophageal (Pes) and gastric (Pga) pressures and used these measurements in a three-component model to estimate instantaneous diaphragmatic (DIA), inspiratory accessory muscle (IAM), and postexpiratory recoil (PER) pressures at various times during inspiration. We validated our model both by volume-pressure relationships of the respiratory system (Vrc-Pga and Vab-Pga, where Vrc and Vab are the rib cage and abdominal volumes, respectively) as well as electromyography of the respiratory muscles. Measurements were carried out at rest and during graded treadmill exercise in 11 subjects with chronic obstructive pulmonary disease (COPDs) and 8 age-matched normal subjects (AMNs). AMNs were 59 +/- 2 (SE) yr and had a forced expiratory volume at 1 s (FEV1.0) of 3.6 +/- 0.2 liters; COPDs were 66 +/- 2 yr and had a FEV1.0 of 1.0 +/- 0.1 liters. We noted the following. At rest, both AMNs and COPDs exhibited an increasing DIA pressure (PDIA) across inspiratory time (TI) at rest. As expired minute ventilation increased with exercise intensity, AMNs continued to maintain this PDIA ramp across inspiration; in contrast, COPDs exhibited higher values of PDIA during the first half of TI than during the second half. At all intensities of exercise, COPDs exhibited higher IAM and PER pressures than the AMNs.     

Estimating repertoire size in a songbird: a comparison of three techniques

Many animals produce multiple types of breeding vocalizations that, together, constitute a vocal repertoire. In some species, the size of an individual’s repertoire is important because it correlates with brain size, territory size or social behaviour. Quantifying repertoire size is challenging because the long recordings needed to sample a repertoire comprehensively are difficult to obtain and analyse. The most basic quantification technique is simple enumeration, where one counts unique vocalization types until no new types are detected. Alternative techniques estimate repertoire size from subsamples, but these techniques are useful only if they are accurate. Using 12 years of acoustic data from a population of rufous-and-white wrens in Costa Rica, we used simple enumeration to measure the repertoire size for 40 males. We then compared these to the estimates generated by three estimation techniques: curve fitting, capture–recapture and a new technique based on the coupon collector’s problem. To understand how sampling effort affects the accuracy and precision of estimates, we applied each technique to six different-sized subsets of data per male. When averaged across subset sizes, the capture–recapture and coupon collector techniques showed the highest accuracy, whereas the curve fitting technique underestimated repertoire size. Precision (the average absolute difference between the estimated and true repertoire size) was significantly better for the capture–recapture technique than the coupon collector and curve fitting techniques. Both accuracy and precision improved as subset size increased. We conclude that capture–recapture is the best technique for estimating the sizes of small repertoires.     

Chronobiological aspects of TSH secretion in control subjects and in subjects with primary hypothyroidism

The circadian rhythm in plasma TSH concentration was demonstrated in euthyroid subjects and in treated hypothyroid patients. Our results suggest that two hypothalamic areas, involved in TRH secretion, are responsables in basal as well impulsive pituitary TSH dismission.