Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.

Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.

A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation: case report.

Weyers ulnar ray/oligodactyly syndrome is characterized by variable ulnar, radial, or fibular ray limb reductions, single central incisor, and renal, splenic or cardiac anomalies. Split hand/split foot malformation is a central reduction defect of the hands and feet, and may occur either as an isolated malformation or as a part of syndrome. We describe a patient with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation.

The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias.

The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias: Wiedemann-Rautenstrauch syndrome is known as a neonatal progeroid syndrome, with only few published case reports. The syndrome is characterized by progeroid appearance (triangular old-looking face with relatively large skull, prominent veins especially of the scalp, sparse scalp hair, and large anterior fontanelle), decreased subcutaneous fat (giving the clinical appearance of prominent veins and muscles), hypotrichosis, macrocephaly, and natal teeth. We report a new additional patient with a new feature of the hypospadias, not previously described, to our knowledge.

Hunter-Gatherer Social Networks and Reproductive Success.

Individuals' centrality in their social network (who they and their social ties are connected to) has been associated with fertility, longevity, disease and information transmission in a range of taxa. Here, we present the first exploration in humans of the relationship between reproductive success and different measures of network centrality of 39 Agta and 38 BaYaka mothers. We collected three-meter contact ('proximity') networks and reproductive histories to test the prediction that individual centrality is positively associated with reproductive fitness (number of living offspring). Rather than direct social ties influencing reproductive success, mothers with greater indirect centrality (i.e. centrality determined by second and third degree ties) produced significantly more living offspring. However, indirect centrality is also correlated with sickness in the Agta, suggesting a trade-off. In complex social species, the optimisation of individuals' network position has important ramifications for fitness, potentially due to easy access to different parts of the network, facilitating cooperation and social influence in unpredictable ecologies.

Are two different projections of the inlet view necessary for the percutaneous placement of iliosacral screws?

We hypothesised that the anterior and posterior walls of the body of the first sacral vertebra could be visualised with two different angles of inlet view, owing to the conical shape of the sacrum. Six dry male cadavers with complete pelvic rings and eight dry sacrums with K-wires were used to study the effect of canting (angling the C-arm) the fluoroscope towards the head in 5° increments from 10° to 55°. Fluoroscopic images were taken in each position. Anterior and posterior angles of inclination were measured between the upper sacrum and the vertical line on the lateral view. Three authors separately selected the clearest image for overlapping anterior cortices and the upper sacral canal in the cadaveric models. The dry bone and K-wire models were scored by the authors, being sure to check whether the K-wire was in or out. In the dry bone models the mean score of the relevant inlet position of the anterior or posterior inclination was 8.875 (standard deviation (sd) 0.35), compared with the inlet position of the opposite inclination of -5.75 (sd 4.59). We found that two different inlet views should be used separately to evaluate the borders of the body of the sacrum using anterior and posterior inclination angles of the sacrum, during placement of iliosacral screws.

Plasma melatonin concentration before and during testosterone replacement in Klinefelter's syndrome: relation to hepatic indolamine metabolism and sympathoadrenal activity.

The mechanisms leading to alterations in plasma melatonin (MT) levels with testosterone replacement in Klinefelter's syndrome (KS) remain elusive. We investigated early morning plasma MT levels, urinary 6-sulfatoxymelatonin (6-SM) levels, and urinary catecholamine levels before and 6 months after testosterone treatment in 31 patients with KS and 20 healthy males to demonstrate whether alterations in plasma MT levels in such patients are due to subtle changes in sympathoadrenal activity and/or alterations in the hepatic indolamine metabolism influenced by testosterone replacement. The plasma MT level was measured by RIA. The sensitivity of the test was 10.7 pmol/L. The 6-SM level was measured by enzyme-linked immunosorbent assay. Urinary catecholamines were determined by high performance liquid chromatography. The pretreatment mean plasma MT level was insignificantly higher in the patient group than in the control group (72.57 +/- 74.82 vs. 42.37 +/- 29.02 pmol/L; z = -1.218; P = 0.223). The pretreatment urinary 6-SM and norepinephrine (NE) levels were significantly lower and, the epinephrine (E) and dopamine levels were insignificantly lower in the patient group than those in the control group [6-SM, 76.54 +/- 31.92 vs. 125.49 +/- 50.16 nmol/L (z = -3.727; P < 0.001); NE, 120.79 +/- 58.33 vs. 178.84 +/- 81.61 nmol/day (z = -2.585; P = 0.01); E, 31.27 +/- 27.42 vs. 34.65 +/- 28.33 nmol/day (z = -0.39; P: = 0.692); dopamine, 1577.02 +/- 863.02 vs. 1812.32 +/- 677.59 nmol/day (z = -1.03, P = 0.308)]. After testosterone replacement, plasma MT levels were significantly decreased (72.57 +/- 74.82 vs. 24.73 +/- 23.61 pmol/L; z = -4.29; P < 0.001), and urinary 6-SM, NE, E, and dopamine levels were significantly increased [6-SM, 25.04 +/- 10.44 vs. 40.05 +/- 17.65 ng/mL (z = -4.78; P < 0.001); NE, 120.78 +/- 58.33 vs. 154.08 +/- 61.35 nmol/day (z = -4.27; P < 0.001); E, 31.27 +/- 27.42 vs. 40.74 +/- 30.04 nmol/day (z = -4.22; P < 0.001); dopamine, 1577.02 +/- 863.02 vs. 2162.67 +/- 823.15 (z = -6.127; P < 0.001)]. There was no relation between plasma MT levels, urinary 6-SM, and catecholamine levels and levels of gonadotropins or gonadal steroids either before or after treatment. We demonstrate that in untreated KS, plasma MT levels tend to be higher than those in normal controls, whereas those of the melatonin metabolite 6-SM and those of NE in urine tend to be lower. After testosterone treatment, however, plasma MT levels fall significantly, whereas urinary levels of 6-SM and NE rise. Our data show that the effect of testosterone is mediated by enhanced metabolism of melatonin, not by any effect on net sympathetic outflow, and that the increase in plasma melatonin in untreated KS patients also results from an alteration in the rate of melatonin metabolism and not from increased net sympathetic activity.

GAPO syndrome in three relatives in a Turkish kindred.

GAPO syndrome in 2 sibs (brother and sister) and in a first cousin presented slight variations in the clinical picture. These include presence of some body hair, white eyelashes, deep furrows on sternum and back, disproportional body build, and minor skeletal abnormalities. It has been suggested that the athletic appearance of affected individuals is most likely due to the excessive amount of connective tissue.

Ophthalmic findings in GAPO syndrome.

BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from Turkey and have been presented by Sayli and Gül. The purpose of our study is to document the cases from Turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. Optic atrophy was present in 1 of our cases and in 5 previous cases. Glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: Optic atrophy is not a constant finding in GAPO syndrome. Glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.

Unilateral proximal femoral focal deficiency and Hirschsprung disease.

A male with unilateral proximal femoral focal deficiency and Hirschsprung disease is described.

Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome?

A sister and brother, with oculocutaneous albinism and reduced bone density are described. Autosomal recessive inheritance is possible. This association has not been previously described.

Camptodactyly, skeletal changes, ptosis and infertility in a male: a new syndrome?

A 21-year-old male is described with camptodactyly, skeletal changes, ptosis and infertility, which suggests a novel malformation syndrome distinct from other camptodactyly syndromes.

Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder.

A 20-year-old male is described with craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly and skeletal changes. On the basis of the clinical and radiological differences with syndromes previously described we classify the present case as a new faciothoracoskeletal syndrome. Parental consanguinity supports autosomal recessive inheritance.

Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.

A 32-year-old male with Woodhouse Sakati syndrome (MIM 241080) is described. Two of the proband's brothers also have diabetes mellitus and similar facial features, however they are not dysarthric. An affected older brother died of an unknown cause at age 30. This confirms autosomal recessive inheritance.

Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.

We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.

Variable clinical expression of Holt-Oram syndrome in three generations.

Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.

The role of ace gene polymorphism in the development of angioedema secondary to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers.

BACKGROUND: Angiotensin Converting Enzyme inhibitors (ACEi) may cause angioedema, with an incidence of 0.1 % to 1 %, which may be life-threatening. ACEi induce angioedema by increasing the levels of bradykinin. Angiotensin II receptor blockers (ATRB), have a pharmacological profile similar to ACEi. The polymorphism of the ACE gene is based on the presence or absence of a 287-bp element on intron 16 on chromosome 17. The plasma level of ACE is related to gene polymorphism. ACE level in genotype DD is double that in genotype II. OBJECTIVE: The aim of this study was to investigate whether the relationship between ACE gene polymorphism and ACEi induced angioedema is present or not. METHODS: ACE gene polymorphism was investigated in patients with angioedema due to the use of ACEi or ATRB (n:32, group 1), in patients receiving ACEi or ATRB without angioedema (n:46, group 2), and healthy controls (n:96, group 3). RESULTS: ID polymorphism was the most frequent genotype in all groups, without any significant difference among the groups (p:0.868). ACE gene polymorphism was not related with the drugs used (ACEi or ATRB), localisation of angioedema, and female sex, in group 1. CONCLUSION: Our results showed that ACE gene polymorphism has no effect on ACEi or ATRB induced angioedema.

Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men.

Recurrent angio-oedema is a sign of various acquired and inherited disease entities, including hereditary angio-oedema types I and II that result from a genetic deficiency of C1 inhibitor, and a recently described type of dominantly inherited angio-oedema, which does not show a deficiency of C1 inhibitor. Until now, this new type of hereditary angio-oedema, designated as hereditary angio-oedema type III, has been assumed to be a disorder specific to females. We now describe a four-generation family with dominantly inherited angio-oedema and normal C1 inhibitor in which, in contrast to all previous observations, not only five female but also three male family members were clinically affected. One male patient was mainly affected following the intake of angiotensin-converting enzyme inhibitors. Our current observation leads to new considerations about the classification of hereditary angio-oedema with normal C1 inhibitor. Either hereditary angio-oedema with normal C1 inhibitor can be an entity affecting females predominantly, but not exclusively; in that case, men appear to have a much reduced chance of clinical manifestations. Alternatively, our present observation of hereditary angio-oedema with normal C1 inhibitor affecting both sexes may represent a new disease entity, presumably with a different underlying defect.