Familial hypouricaemia associated with renal tubular uricosuria and uric acid calculi: case report

We describe a patient with the rare combination of uric acid calculi, familial hypouricaemia, and increased renal urate clearance.     

Preimplantation genetic diagnosis of spinal muscular atrophy

After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustment and evaluation of an established SMN exon 7 polymerase chain reaction (PCR) protocol at the single cell level, and the first preimplantation genetic diagnosis (PGD) of SMA with this PCR protocol. To determine PCR efficiency and allelic loss, 200 leukocytes of normal individuals, SMA carriers and patients, and 25 blastomeres were tested. The PCR efficiency of the SMN exon 7 and the adjacent copy gene sequence, tested in the leukocytes, were 90% and 91% respectively. No allelic loss was detected. One out of 25 blastomeres tested revealed a negative PCR signal for the SMN exon 7 sequence. All 25 showed the copy gene sequence. PGD of SMA was offered to a couple with an affected child homozygous for the SMN exon 7 deletion. After intracytoplasmic sperm injection, four and five embryos could be genotyped for the SMN exon 7 in two cycles respectively. After embryo transfer in the second PGD cycle an ongoing gemelli pregnancy was achieved. This study demonstrates that PGD for SMA is feasible when a previous child is homozygous for the SMN exon 7 deletion.      

Cytogenetics of fetal wastage.

A consecutive series of 50 couples with a histroy of fetal wastage were studied cytogenetically with current banding technics. Fetal wastage was defined as occurring in couples who had more than two early abortions, stillbirth(s) or livebirths(s) or both of infants with multiple congenital anomalies. Three women were found to be balanced reciprocal translocation carriers; all translocations were not detectable by the conventional method but were demonstrable by current banding technics. In addition to the translocation carriers, one woman was found to be a mosaic for 45,X/46,XX/47,XXX. Four of the parents showed increased mitotic instability or chromosome breakage and rearrangement, or both. Parental chromosome abnormalities may therefore account for fetal wastage in between 6 and 16 per cent (or about one in 10) of couples having such a history. Such couples, if identified, can potentially benefit by prenatal monitoring of future pregnancies.     

Anatomic basis for use of a distal pedicle leg flap

Summary The cutaneous blood-supply of the limbs is ensured by three types of arteries: the large septo-cutaneous arteries, the slender musculocutaneous arteries, and the rare satellites of the cutaneous nerves. The skin cover of the outer aspect of the leg is particularly well vascularized thanks to its special situation, centered on the intermuscular septa bounding the outer compartment of the leg. Neuromuscular arteries are rare at this site, but there are numerous septo-cutaneous arteries at intervals along the septa. This anatomic study is based on 20 dissections and a radiologic survey and provides findings confirming the reliability of a distally based lateral leg flap. This pedicle arises from the fibular artery behind and the anterior tibial artery in front. It is situated, on average, 10.8 cm from the lateral malleolus, thus allowing coverage of peripheral losses of substances at the malleoli and heel.

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Bases anatomiques de l'utilisation d'un lambeau jambier à pédicule distal

Résumé La vascularisation cutanée des membres est assurée par trois types d'artères: les artères septocutanées qui sont volumineuses; les artères musculo-cutanées qui sont grêles et les artères superficielles, satellites du nerf à destinée cutanée, qui sont rares. Le revêtement cutané de la face latérale de la jambe est particulièrement bien vascularisé, grâce à sa situation privilégiée, centré sur les septa intermusculaires limitant la loge externe de la jambe. Les artères neuromusculaires sont rares à ce niveau. Par contre, on retrouve de nombreuses artères septo-cutanées volumineuses étagées le long des septa. Nous avons entrepris un travail anatomique reposant sur 20 dissections et sur une étude radiologique. Nos résultats nous permettent d'établir ces données et confirment la fiabilité d'un lambeau jambier latéral à pédicule distal. Ce pédicule naît de l'artère fibulaire en arrière et de l'artère tibiale antérieure en avant. Il est situé à 10,8 cm en moyenne de la malléole latérale permettant ainsi de couvrir les pertes de substance périphériques malléolaires et talonnières.

     

The Italian Network for Tumor Biotherapy (NIBIT): Getting together to push the field forward

Ayurveda is one of the ancient systems of health care of Indian origin. Roughly translated into "Knowledge of life", it is based on the use of natural herbs and herb products for therapeutic measures to boost physical, mental, social and spiritual harmony and improve quality of life. Although sheltered with long history and high trust, ayurveda principles have not entered laboratories and only a handful of studies have identified pure components and molecular pathways for its life-enhancing effects. In the post-genomic era, genome-wide functional screenings for targets for diseases is the most recent and practical approach. We illustrate here the merger of ayurveda and functional genomics in a systems biology scenario that reveals the pathway analysis of crude and active components and inspire ayurveda practice for health benefits, disease prevention and therapeutics.     

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic,autosomal recessive disorder: Mystery solved after two decades

Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger‐Hüet anomaly in this disorder led to its name as an acronym for S hort stature, O ptic nerve atrophy, and P elger‐H üet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype–genotype correlations. We review the clinical features described in these publications and report on a 27‐year‐old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease‐causing variant that was compound heterozygous with a novel pathogenic variant in NBAS. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition.