No abstract

Bistritzer T, Fried K, Lahat E, Dvir M, Goldberg M. Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. Clin Genet 1993: 44: 15–19. © Munksgaard, 1993 A Bedouin family with two girls affected by severe congenital contractural arachnodactyly (CCA) is described. The girls were double second cousins. One of the girls also had ambiguous genitalia, an anomaly not generally associated with this disorder. The two children were both the product of first‐cousin Bedouin parents from the same family. It is possible that both sets of parents were heterozygous for CCA; thus the infants may have been homozygous for CCA, which is usually an autosomal dominant condition. No instance of homozygous CCA has previously been reported. This family suggests genetic heterogeneity in CCA and that, in some rare families, the mode of inheritance may be autosomal recessive.

Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1980, 47 patients were collected, of whom 40 were of European origin. In these European Jews, the ITD frequency was about 1:23 000 live births, which was five-fold greater than in Jews of Afro-Asian origin. Assuming that all cases fit the same genetic model, an X linked or a simple autosomal recessive model of inheritance did not agree well with our data. An autosomal dominant model with low penetrance could have accounted for our observations and would yield an ITD gene frequency in European Jews of 3 to 4: 100 000. In view of the increased ages of their fathers, the isolated cases may have included some new mutations. Multifactorial inheritance was also possible. However, it may be inappropriate to assume that all cases have the same genetic basis, or even that all are inherited.

A family in which a brother and 5 sons of five sisters were mentally retarded without major physical abnormality, is reported. Two hydrocephalic males also occurred in the family. The possibility is entertained that in this family (and probably in others) an X‐linked gene caused either non‐specific mental retardation or hydrocephalus associated with mental retardation. Some minor physical and neurological abnormalities were found in some of the affected males, and their intelligence varied considerably within the retarded range.

Early detection of disease can speed treatment, slow spread of disease in a herd, and improve health status of animals. Immune stimulation increases rectal temperature (RT). Injectable radio-frequency implants (RFI) can provide temperature at the site of implantation. The fidelity of peripheral site temperature, determined by RFI, relative to RT is unknown in cattle. We hypothesized that during lipopolysaccharide (LPS) challenge, temperature at 3 peripheral sites would be similar to RT in steers (n = 4; BW 77 ± 2.1 kg). The 3 sites were 1) subcutaneous (SC) at the base of the ear (ET); 2) SC posterior to the poll (PT); and 3) SC beneath the umbilical fold (UT). Steers were housed in controlled temperature (CT) rooms (between 18 and 21°C; n = 2/room). Rectal temperature, ET, PT, and UT were recorded every 8 h daily. On d 7, 21, 22, 36, and 37, RT and RFI were taken every 5 min for 6 h, every 15 min for 3 h, and every 30 min for 15 h. To test RFI during a simulated immune challenge, LPS (E. coli 055:B5) was injected intravenously (i.v.) at 1000 h on d 22 and 37. Basal temperatures (°C) were RT (38.7 ± 0.20), ET (37.1 ± 0.86), PT (36.7 ± 0.57), and UT (36.3 ± 0.97). Rectal temperature increased to 39.9 ± 0.30°C after LPS, but ET, PT, and UT decreased. Heat stress also increases RT, which makes it difficult to identify sick animals using RT. The second hypothesis tested was that ET positively correlates to RT and negatively correlates to RT during LPS under heat stress. Four steers (127 ± 7.3 kg) were housed in CT chambers (n = 2/chamber), implanted with a RFI, and allowed 2 wk to acclimate. One chamber remained at 20°C, the other was increased to 34°C starting at 0800 h for a period of 48 h. The LPS was administered i.v. to all steers at 1000 h on d 2. After a 2-wk recovery at 20°C, the temperature was increased in the other chamber, resulting in a crossover design with each steer serving as its own control. Pearson's correlation coefficients for ET and RT were 0.30 (P < 0.01) during heat stress, 0.20 (P < 0.05) during heat stress with LPS challenge, 0.34 (P < 0.01) during thermoneutrality, and -0.42 (P < 0.01) during thermoneutrality with LPS. These data refute the hypothesis that RT and peripheral temperature move in synchrony after LPS challenge. These data suggest that individual response be considered when identifying models for use of ET, but these RFI have potential for use in the early detection of diseases that alter basal temperature.

Two unrelated large sibships, including 10 cases of congenital afibrinogenemia among 27 sibs, are reported. Both sibships were the product of uncle‐niece marriages. They were not selected for any particular clinical manifestation and should provide some information on genetic fitness. Six of the patients died in childhood, two affected boys are adolescent and two affected patients are young women. Two of the four survivors had spontaneous ruptures of the spleen. Fitness in this very rare disease seems to be close to zero and the inheritance is autosomal recessive.

The proposita was operated on in this hospital in 1980 for pyloric stenosis, at the age of 13 days, after vomiting had started 5 days previously, and the diagnosis had been confirmed on radiological investigation. Her older sister and two male cousins of the father had the same operation in Israel in infancy. The other nine affected individuals in the family were known to have had projectile vomiting for several months in infancy, and two of them died in infancy. They were all born in the Jewish community in Georgia, U.S.S.R. The male:female sex ratio was 2:2 for the operated cases, and 4:5 for those with projectile vomiting history. There was no skipping of a generation. This family indicates that pyloric stenosis can exceptionally be inherited as a simple autosomal dominant trait.

ABSTRACT. --Continuous exposure of male rats to an elevated environmental temperature (33-35 ° C) for 3 weeks led to heat-acclimatized (HA) rats whose serum testosterone concentratrion was significantly lower (P < 0.01) than that of control (C) rats (20-22 ° C). The decrease in the androgen level was independent of major changes in serum FSH and LH concentrations, as well as hypothalamic content of thyrotropinreleasing hormone (TH R), gonadotropin-releasing hormone (GnRH) and prostaglandin E 2 (PGE2). However, the prostaglandin F2~(PGF2~) content of the hypothalamus of HA rats was significantly lower (P < 0.05) than that of C. The number of receptors for human chorionic gonadotropin (hCG) was significantly lower in testicular tissue of HA rats as compared to C males. Histological examination of t he testis disclosed t hat exposure to heat adversely affected the sperm production and integrity of the Sertoli cells. Activity of enzymes associated with testosterone biosynthesis in testicular tissue of rats incubated at temperatures similar to those prevailing in the scrotum of HA rats resembled the activity of these enzymes observed in HA animals. Catabolism of testosterone was enhanced when kidney and liver of C rats were incubated at temperatures similar to the deep-body temperatures of HA rats, supporting the thesis that acclimatization to heat is coupled, interalia, with increased androgen catabolism and excretion. It is suggested that the lower reproductive performance of H A rats is associated wit.h several phenomena: a low number of receptors for hCG in the testes, decreased testosterone production rate by the Leydig cells, increased catabolism and excretion of androgen, and partial atrophy of seminiferous tubules and Sertoli cells. These changes appear to be independent of either alteration in serum gonadotropin concentration or hypothalamic contents ofTRH, GnR H and PGE2. The physiological significance in the response of PGF:~ awaits further clarification.