Ultrasound in tropical pyomyositis

Tropical pyomyositis is an infection of muscles mainly presenting in black people, occurring in the trunk and limbs. At Hoima Hospital, Uganda, 58 patients (30 men and 28 women) with a mean age of 21 years have been investigated by ultrasound; a total of 81 lesions were present. Two different characteristic images were found; abscess was present in 65 cases while 16 patients showed a diffuse infiltration among the muscular fibers. These two different images correspond to the two stages of histologic and clinical progression described by other authors. Ultrasound is useful to demonstrate the progression of pyomyositis and to determine when and where to drain any abscess.     

Post traumatic pseudocyst of the spleen: case report on a conservative management through percutaneous drainage

Non-parasitic cysts of the spleen are uncommon and often result from blunt abdominal trauma. These lesions are classified as splenic pseudocysts. Until recently, splenectomy has been the primary choice of treatment of these pseudocysts. The trend for treatment of spleen cysts is now towards a conservative management. The case reported herein is an example of a post traumatic splenic pseudocyst successfully treated with a conservative approach (ultrasound aided percutaneous drainage). In most tropical countries, also in view of lack of resources and expertise, a conservative non-surgical of post-traumatic spleen cysts management could be appropriate and feasible under certain circumstances.     

A 19 year follow‐up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion

We show the long‐term efficacy and safety of modified biliopancreatic diversion for the treatment of LPL‐deficiency. How this option compares with gene therapy is difficult to evaluate due to limited experience. Surgery may be the first option in patients in whom medical therapy is ineffective and gene therapy not applicable.     

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Journal of Neurology - Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in...     

Genetic linkage analysis and presymptomatic testing in Huntington's disease. First report in Italy.

Since 1979 data about Huntington's Disease (HD) in Campania, a region of Southern Italy, has been collecting. The prevalence of HD in this sample is 30.3 x 10(-6) (115 pedigrees, 1470 individuals). Mean age at onset was 38.67 years and the juvenile (onset before 20 years) accounted for 5.8%. Genetic linkage analysis in 4 unrelated pedigrees with D4S10 and D4S95 DNA probes has been performed. The absence of genetic heterogeneity--already proposed in a cooperative study for one pedigree--has been confirmed in this study.     

Identification of C12orf4 as a gene for autosomal recessive intellectual disability

Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report two Finnish families and one Dutch family with affected individuals presenting with mild to moderate ID, neuropsychiatric symptoms and delayed speech development. By utilizing whole exome sequencing (WES), we identified a founder missense variant c.983T>C (p.Leu328Pro) in seven affected individuals from two Finnish consanguineous families and a deletion c.799_1034‐429delinsTTATGA (p.Gln267fs) in one affected individual from a consanguineous Dutch family in the C12orf4 gene on chromosome 12. Both the variants co‐segregated in the respective families as an autosomal recessive trait. Screening of the p.Leu328Pro variant showed enrichment in the North Eastern sub‐isolate of Finland among anonymous local blood donors with a carrier frequency of 1:53, similar to other disease mutations with a founder effect in that region. To date, only one Arab family with a three affected individuals with a frameshift insertion variant in C12orf4 has been reported. In summary, we expand and establish the clinical and mutational spectrum of C12orf4 variants. Our findings implicate C12orf4 as a causative gene for autosomal recessive ID.