Protocol of a prospective study on the diagnostic value of transcranial duplex scanning of the substantia nigra in patients with parkinsonian symptoms

Background  

Parkinson's disease (PD) is the second most common neurodegenerative disorder. As there is no definitive diagnostic test, its diagnosis is based on clinical criteria. Recently transcranial duplex scanning (TCD) of the substantia nigra in the brainstem has been proposed as an instrument to diagnose PD. We and others have found that TCD scanning of substantia nigra duplex is a relatively accurate diagnostic instrument in patients with parkinsonian symptoms. However, all studies on TCD so far have involved well-defined, later-stage PD patients, which will obviously lead to an overestimate of the diagnostic accuracy of TCD.     

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

Postaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the presence of rudimentary fifth digit, have been described. Both isolated and syndromic forms of PAP have been reported. Isolated forms of PAP usually segregate as an autosomal dominant trait and to date four loci have been identified. In the present study, we have described mapping of the first locus of autosomal recessive PAP type A on chromosome 13q13.3–13q21.2 in a consanguineous Pakistani family. Using polymorphic microsatellite markers, the disease locus was mapped to a 17.87-cM (21.13 Mb) region flanked by markers D13S1288 and D13S632, on chromosome 13q13.3–13q21.2. A maximum multipoint LOD score of 3.84 was obtained with several markers along the disease interval. DNA sequence analysis of exons and splice-junction sites of ten candidate genes (CHM-I, TSC22D1, FOXO1, DIAPH3, CCDC122, CKAP2, SUGT1, RANKL, LPAR6, C13ORF31) did not reveal potentially causal variants.     

Urinalysis of patients suffering from climatic heat stress (Sharav)

Hot dry winds (Sharav in Israel) are notorious for causing controversial symptoms such as depression, discomfort, headaches, irritability and exacerbation of respiratory ailments. Daily urinalysis combined with study of the complaints of two hundred weather-sensitive patients suffering from Sharav have shown that there exist at least three different patterns of reaction: serotonin hypersecretion causing a general "Irritation Syndrome", catecholamine deficiency resulting in the "Exhaustion Syndrome", histamine and creatinine overproduction combined with clinical "Hyperthyroidism - Forme Fruste" and typical thyroid complaints. These syndromes are amenable to appropriate treatment controlled by urinalysis.

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Zusammenfassung Trockene heisse Wüstenwinde (Sharav in Israel) rufen eine seltsame Mischung von Symptomen hervor wie Depression, Unwohlsein, Kopfschmerzen, Reizbarkeit und Verschlimmerung respiratorischer Beschwerden. Tägliche Urinuntersuchungen kombiniert mit dem Studium der verschiedenen Beschwerden von 200 Sharav-gefühligen Personen haben gezeigt, dass drei verschiedene Reaktionsformen vorliegen: Serotonin-Ausschüttung, die zu einem allgemeinen Irritationssyndrom führt; Katecholamin-Mangel, der zu einem typischen Erschöpfungssyndrom führt; Histamin- und Kreatinin-Ausschüttung, die mit leichtem Hyperthyreoidismus einhergehen. Letzteres Syndrom bereitet dem Patienten nur an Sharav-Tagen Beschwerden. Die Syndrome sind durch gezielte und Urin-kontrollierte Behandlung heilbar.

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Resume Des vents chauds et secs provenant du désert (le Charav en Israël par exemple) sont connus pour provoquer un ensemble de symptômes particuliers tels que dépression nerveuse, indisposition, céphalées, irritabilité et aggravation des troubles respiratoires. L'analyse journalière de l'urine et l'étude des divers symptômes que présentaient 200 personnes sensibles au Charav ont montré la présence de trois formes différentes de réactions: sécrétion accrue de sérotonine qui conduit à un syndrome d'irritabilité générale; une carence en catécholamine qui se traduit par un syndrome typique d'épuisement; une sécrétion d'histamine et de créatinine parallèle à un faible hyperthyréoïdisme. Ce dernier syndrome ne provoque des troubles aux patients que durant les jours où le Charav souffle. Ces trois syndromes sont guérissables par une médication appropriée et dont l'effet est contrôlé par des analyses d'urine.