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.

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.

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.

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

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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.

Infrequent early recanalization of greater saphenous vein after endovenous laser treatment.

OBJECTIVE: The frequency of recanalization of the greater saphenous vein (GSV) after endovenous laser treatment (ELT) is unclear. This study was undertaken to establish the incidence of early recanalization after ELT and to study the histopathologic features of reperfused and excised GSV. METHODS: One hundred nine GSV in 85 consecutive patients with clinical stage C(2-6) E(P,S) A(S,P,D) P(R) disease were treated with ELT. Twelve months of follow-up with duplex scanning at regular intervals was possible in 104 treated veins (95.4%) in 82 patients (96.5%). Recanalized vessels were removed surgically and examined at histopathology. RESULTS: ELT-induced occlusion proved permanent at duplex scanning over 12 months of follow-up in 94 of 104 GSV (90.4%) in 73 patients. In 4 patients, 5 GSV (4.8%) were recanalized completely after 1 week, after 3 months (n = 3), or after 12 months. Another 5 GSV (4.8%) in 5 patients exhibited incomplete proximal recanalization over the 12 months of follow-up. Finally, 9 recanalized vessels (8.6%) required further treatment with high ligation and stripping. Histopathologic analysis of recanalized GSV revealed a multiluminal pattern, as commonly noted in reperfusion after spontaneous thromboplebotic occlusion of the GSV. During follow-up, secondary incompetency of untreated lateral accessory saphenous veins was observed in two legs (1.9%). CONCLUSION: Early recanalization requiring retreatment is observed in less than 10% of GSV after ELT. The histopathologic pattern mimics recanalization after thrombophlebotic occlusion.

Thermal damage of the inner vein wall during endovenous laser treatment: key role of energy absorption by intravascular blood.

BACKGROUND: Despite the clinical efficacy of endovenous laser treatment (EVLT), its mode of action is incompletely understood. OBJECTIVE: To evaluate the role of intravascular blood for the effective transfer of thermal damage to the vein wall through absorption of laser energy. METHODS: Laser energy (15 J/pulse, 940 nm) was endovenously administered to explanted greater saphenous vein (GSV) segments filled with blood (n = 5) or normal saline (n = 5) in addition to GSVs under in vivo conditions immediately prior to stripping. Histopathology was performed on serial sections to examine specific patterns of damage. Furthermore, in vitro generation of steam bubbles by different diode lasers (810, 940, and 980 nm) was examined in saline, plasma, and hemolytic blood. RESULTS: In saline-filled veins, EVLT-induced vessel wall injury was confined to the site of direct laser impact. In contrast, blood-filled veins exhibited thermal damage in more remote areas including the vein wall opposite to the laser impact. Steam bubbles were generated in hemolytic blood by all three lasers, while no bubbles could be produced in normal saline or plasma. CONCLUSION: Intravascular blood plays a key role for homogeneously distributed thermal damage of the inner vein wall during EVLT.

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.

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.

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.

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.

Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome.

We report a female newborn with Johanson-Blizzard syndrome associated with extreme intrauterine growth retardation, aged facial appearance, and atrial septal defect. Other features are microcephaly, prominent veins over the scalp, alopecia over the vertex, wide-open fontanelle, high forehead, antimongoloid slant, edematous eyelids, the absence of eyebrows and eyelashes, beaked nose with alae nasi, low-set ears, thin lips, and micrognathia. Investigations revealed deafness and congenital hypothyroidism. We believe that this association of severe intrauterine growth retardation and congenital heart disease represents the components of this syndrome.

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.

Unilateral proximal femoral focal deficiency and Hirschsprung disease.

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

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.