Hereditary congenital coxa vara with dominant inheritance?

Summary A family in which 5 of the members had coxa vara is presented. The occurrence of coxa vara in the 4-year-old proband as well as in his father and paternal grandmother strongly suggest an autosomal dominant pattern of inheritance.

---

Zusammenfassung Es wird eine Familie beschrieben, in welcher 5 Mitglieder eine Coxa vara aufwiesen. Das Auftreten dieser Anomalie bei dem 4jährigen Probanden wie bei seinem Vater und der väterlichen Großmutter legt den Gedanken an einen autosomal-dominanten Erbgang sehr nahe.

     

45,XO Turner's syndrome,Wilm's tumor and imperforate anus

Summary An eleven-year-old girl with 45,XO Turner's syndrome, Wilms' tumor and imperforate anus is presented. The family history revealed that a sib of the patient also had imperforate anus. A review of the literature showed that the occurrence of Wilm's tumor in patients with Turner's syndrome has not been recorded previously, although it is known that anomalous differentiation of the kidneys is relatively common in this condition.

---

Zusammenfassung Ein elfjähriges Mädchen mit 45,XO-Turner-Syndrom, Wilms-Tumor und Atresia ani wird beschrieben. Ein Geschwister hatte ebenfalls eine Atresia ani gezeigt. Wie eine Durchsicht der Literatur ergab, was das Vorkommen des Wilms-Tumors beim Turner-Syndrom vorher neimals beschrieben worden, obwohl bekannt ist, daß Nierenfehlbildungen bei diesem Syndrom relativ häufig sind.

     

Influence of Chirality of Benzimidazole Amine Hybrids on Inhibition of Human Erythrocytes Carbonic Anhydrase I,II and Acetylcholinesterase

Novel chiral benzimidazole amine hybrids ( 4a – 4d ) were synthesized from commercially available amine [(R)- (+)-phenylethylamine, (−) (S)-(-)-phenylethylamine, (−) (R)-(-)-cyclohexylethylamine, (S)-(+)-cyclohexylethylamine] and 2-(chloromethyl)-N-tosyl-1H-benzimidazole. The synthesized compounds ( 4a – 4d ) were characterized by IR, NMR, and LC/MS analysis. The inhibitory effect of 4a – 4d on human erythrocytes carbonic anhydrase I (hCA-I), II (hCA-II), and acetylcholinesterase (AChE) activity was investigated. For hCA-I, the IC₅₀ values of 4a – 4d were found to be 4.895 μM, 1.750 μM, 0.173 μM, and 0.620 μM, respectively, and for hCA-II, the IC₅₀ values of 4a – 4d were found to be 0.469 μM, 0.380 μM, 0.233 μM, 0.635 μM, respectively. Furthermore, IC₅₀ values of 4a – 4d on AChE were found as 87.5 nM, 100 nM, 26.92 nM, and 100 nM, respectively. In addition, molecular docking analysis was performed to evaluate the affinity of 4a – 4d against hCA-I, hCA-II, and AChE and explain their binding interactions.