Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.

BACKGROUND: Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype. OBJECTIVE: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1. SETTING: Tertiary referral university hospital setting. PATIENTS AND METHODS: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact. RESULTS: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele. CONCLUSIONS: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.

Pseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.

OBJECTIVE: To report the clinical findings of 10 patients diagnosed with pseudomigraine with lymphocytic pleocytosis and the results of mutational analysis of the CACNA1A gene in 8 of these patients. BACKGROUND: Pseudomigraine with lymphocytic pleocytosis, also referred to as headache with neurologic deficits and cerebrospinal fluid lymphocytosis (HaNDL), is characterized by episodic transient neurologic dysfunction associated with moderate to severe headache and cerebrospinal fluid lymphocytic pleocytosis. Episodes are recurrent and the condition is self-limiting. The etiology of this sporadic condition remains unknown, but the episodic nature and its ability to be triggered by angiography is somewhat reminiscent of the phenotypic features of familial hemiplegic migraine, a condition caused by mutations in the CACNA1A gene. DESIGN/METHODS: Utilizing retrospective chart review, we describe the clinical features of pseudomigraine with lymphocytic pleocytosis in 10 patients. Whole blood was taken from 8 patients (2 were lost to follow-up) and used for DNA testing. The CACNA1A gene was screened for mutations using heteroduplex analysis and direct DNA sequencing. RESULTS: Clinical features of pseudomigraine with lymphocytic pleocytosis included transient episodes of weakness, sensory and visual symptoms, aphasia, and confusion lasting minutes up to 4 hours. Sensory symptoms, typically affecting the face and arm, were the most common presentation. Localization of symptoms did not conform to vascular territories. Headache was typically throbbing and most often bilateral. Genetic analysis did not identify any mutations in the CACNA1A gene. CONCLUSIONS: Similarities between familial hemiplegic migraine and pseudomigraine with lymphocytic pleocytosis include recurrent headache with reversible neurologic deficit, cerebrospinal fluid lymphocytic pleocytosis, and triggers such as angiography. Even so, heteroduplex analysis and DNA sequencing failed to identify any sporadic mutations or shared polymorphisms in the exons or the intron/exon boundaries of the CACNA1A gene. These results do not support a role of the CACNA1A gene in the etiology of pseudomigraine with lymphocytic pleocytosis.

[Anastomosis using the Valtrac ring--pro and con]. / Anastomózy pomocou Valtracu--pre a proti.

Authors present their experiences with the gastrointestinal anastomosis construction with the biofragmentable ring (Valtrac). Between May 1995 and June 1999 they used it in the group of 75 patients with mean age 58.4 (range 19-59) years. They used Valtrac most often--in 32 patients--to construct the anastomosis between small and large bowel after right hemicolectomy. One enterocutaneous fistula and one intestinal obstruction due to adhesions occurred in this group. Two patients had the signs of fecal impaction in postoperative period, which disappeared after the ring fragmentation. According to their experiences authors claim, that the anastomosis with Valtrac is a safe procedure with a few number of postoperative complications. Disadvantage in our conditions is its high price.

Iatrogenic injuries of large vessels.

At the beginning of the article the authors emphasized that the frequency of iatrogenic injuries of great vessels is very high now. They draw attention to the damage caused in coincidence with invasive diagnostic or therapeutic methods. The iatrogenic injuries are brought about during extensive operations due to advanced tumors, during transplantations and extensive reconstructive or corrective operations. But even some simple and common operations are not protected from these complications. The authors present their series of 10 patients with iatrogenic injuries treated during the years 1989-1991. The submitted case reports indicate interesting aspects of these accidents. The conclusions show the importance and danger of these accidents, and also the possibility of incorrigible results being caused by incorrect steps. (Tab. 1, Ref. 14.)

[Treatment of cholecysto-choledocholithiasis in the present era of minimally invasive laparoscopic surgery]. / Liecba cholecysto-choledocholitiázy v súcasnej ére málo invazívnej laparoskopickej chirurgie.

The authors try to contribute to the solution of the problem of cholecystolithiasis associated with choledocholithiasis. Nowadays in the era when choledochilithiasis is treated by low-invasion methods the solution has a different character. The majority of gallstones is symptomatic, their verification and removal by the endoscopic route is not associated with major problems. Concrements not detected during the perioperative period and not detected by diagnostic methods may cause various postoperative difficulties. The authors' experience is based on 302 laparoscopic cholecystectomies performed in the course of 14 months. They made cholangiographic examinations in 54 of the operated patients. This number comprised 21 where the examination was made before the operation, 18 during the operation and in 5 it was made during the postoperative period. In 20 patients (37.03%) the cholangiographic finding was positive. Due to intensive collaboration with the endoscopic centre, when using the method of therapeutic splitting und per operative cholangiography in indicated cases, they were able to reduce the risk of missed concrements to 0.33%.

[Laparoscopic peroperative cholangiography--indications and significance]. / Laparoskopická peroperacná cholangiografia--indikácia a význam.

The authors have performed 35 peroperative laparoscopic cholangiographies by means of transcystic cannylation of the choledochus in 410 patients subdued to laparoscopic cholecystectomy. Choledocholelithiasis was found in 8 patients (22.85%). The authors advocate for the application of peroperative cholangiography in indicated cases since the method is simple, safe and sufficiently successful. (Tab. 5, Ref. 9.)

[Importance of close interdisciplinary cooperation in the treatment of diseases of the thyroid gland]. / Význam tesnej interdisciplinárnej spolupráce pri liecbe ochorení stítnej zlazy.

The authors reflect on the importance of interdisciplinary collaboration when resolving problems of the diagnosis and treatment of diseases of the thyroid gland. In 1989-1993 at the First Surgical Clinic of the Kosice Hospital 189 patients were operated on account of thyroid disease. During the last year the number of operations increased substantially due to better cooperation. In their group eufunctional nodular goitre was indicated most frequently for surgery. In the diagnosis they preferred ultrasonography and needle aspiration cytology. Peroperative biopsy is used in every operation of the thyroid gland. If the USG and cytological finding are not clear, they perform hemothyroidectomy and send the material to a pathologist for evaluation. By intensive interdisciplinary collaboration they achieved a very low number of two-stage operations in carcinoma, 1.05% paralyses of the recurrent nerve and a 1.58% postoperative mortality.