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Biomedical subjects

H Thiele

Publications and source records attributed to H Thiele.

At least 19 recordsLinked to original sources
PubMed1997

Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?

Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in this syndrome may be evidence of a different condition.

Contracture↗
PubMed1996

Familial arhinia, choanal atresia, and microphthalmia.

We describe two females (aunt and niece) with variable manifestations of arhinia, choanal atresia, microphthalmia, and hypertelorism. In the literature there is only one report on this syndrome in sibs. We hypothesize autosomal dominant inheritance with reduced penetrance.

Adolescent↗
PubMed1996

Triterpenoid saponins from Bellis bernardii.

Nine saponins were isolated from the deacylated saponin mixture obtained from the whole plants of Bellis bernardii. Their structures have been elucidated from NMR and MS data and by chemical derivatization. Three were glycosides of the recently reported bellisonic acid (2 beta, 3 beta,-23-trihydroxy-16-oxoolean-12-en-28-oic acid), with the major compounds being related glycosides of polygalacic acid (2 beta, 3 beta, 16 alpha, 23-tetrahydroxyolean-12-en-28-oic acid). In addition, a saponin of bayogenin (2 beta, 3 beta, 23-trihydroxyolean-12-en-28-oic acid) was obtained and is the first acyl glycoside of this aglycon with a free hydroxyl group at C-3.

Carbohydrate Sequence↗
PubMed1996

[Results of laparoscopic cholecystectomy in elderly patients].

The results of 277 patients aged 70 years and over are compared to 1522 operations performed on younger patients. Older patients had significantly more postoperative complications; the conversion rate was also higher than in the younger patient collective. Compared to open cholecystectomy, however, the results are in favor of laparoscopic cholecystectomy and also aged patients benefit from this approach.

Adolescent↗
PubMed1995

Both allelic forms of the rat T cell differentiation marker RT6 display nicotinamide adenine dinucleotide (NAD)-glycohydrolase activity, yet only RT6.2 is capable of automodification upon incubation with NAD.

The finding that recently cloned mono-ADP-ribosyltransferases show sequence similarity to the rat T cell differentiation marker RT6 has led us to investigate the enzymatic activity of this alloantigenic system. To search for ADP-ribosylation of cell surface proteins, T cell populations from RT6.1- and RT6.2-expressing rat strains, as well as RT6.1+ and RT6.2+ T-T hybridoma cell lines, were incubated with [32P]nicotinamide adenine dinucleotide (NAD). All RT6.2+, but no RT6.1+ or RT6- cells, show incorporation of radioactivity into a single protein which could be identified as RT6.2 by immunoprecipitation with monoclonal antibodies. This automodification of RT6.2 is covalent, requires intact NAD as substrate, and displays characteristics typical for linkage of ADP-ribose to arginine. The alloantigens RT6.1 and RT6.2 differ in ten amino acids, RT6.2 having two arginine residues not present in RT6.1. Both alloantigens were found to display potent NAD-glycohydrolase activity.

ADP Ribose Transferases↗
PubMed1995

Structure elucidation of a glycoside of 2 beta, 3 beta, 23-trihydroxy-16-oxoolean-12-en-28-oic acid from Bellis bernardii using mass spectrometry for the sugar sequence determination.

The structure of a novel saponin, possessing an unusual aglycone named bellisonic acid and isolated from whole plants of Bellis bernardii, has been elucidated by modern ms and nmr techniques as 3-O-alpha-L-rhamnopyranosyl-2 beta, 3 beta, 23-trihydroxy-16-oxoolean-12-en-28-oic acid 28-alpha-L-rhamnopyranosyl(1-->3)-O-beta-D-xylopyranosyl(1-->4)-alpha-L- rhamnopyranosyl(1-->2)-beta-D-fucopyranoside [1]. Ms procedures of general applicability allowed unambiguous sugar sequence determination from very small amounts of material.

Carbohydrate Conformation↗
PubMed1995

Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 controls using the polymerase chain reaction (PCR) and a refined Southern protocol. In the majority of the cases molecular analysis confirmed the clinical diagnosis. These included seven cases of congenital DM (CDM) with widely differing gene expansions and instabilities. In most DM families the expanded fragment became larger in successive generations, but we also identified four families with contractions and two families that showed stability of the enlarged fragment during transmission. In four clinically defined DM patients we were unable to detect enlarged CTG repeats. Sequencing of each exon of the DM gene in two of these patients failed to show any mutations. Our cases have important implications for genetic counselling of DM families, highlighting both the diagnostic value of direct genomic analysis and its limitations.

Adult↗
PubMed1995

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Two novel mutations in the sex-determining gene SRY were identified by screening DNA from 30 sex-reversed XY females by using the SSCP assay. Both point mutations lead to an amino acid substitution in the DNA-binding high-mobility-group domain of the SRY protein. The first mutation, changing a serine at position 91 to glycine, was found in a sporadic case. The second mutation, leading to replacement of a highly conserved proline at position 125 with leucine, is shared by three members of the same family, two sisters and a half sister having the same father. The mutant SRY proteins showed reduced DNA-binding ability in a gel-shift assay. Analysis of lymphocyte DNA from the respective fathers revealed that they carry both the wild-type and the mutant version of the SRY gene. The fact that both fathers transmitted the mutant SRY copy to their offspring implies that they are mosaic for the SRY gene in testis as well as in blood, as a result of a mutation during early embryonic development.

Adolescent↗
PubMed1995

[Laparoscopic cholecystectomy in pregnancy. A description of 2 cases and review of the literature].

Although pregnancy is still widely considered to be a contraindication to laparoscopic cholecystectomy, several successful cases have been published so far. This paper reports on two cases of laparoscopic cholecystectomy performed during the second trimester for recurrent biliary pancreatitis and acute cholecystitis. There were no intra- or postoperative complications, the obstetric course was also uneventful in both cases. Important aspects to be considered are the placement of trocars and the pressure of the pneumoperitoneum, which should not exceed 12 mmHg. The need for intraoperative monitoring and cholangiography is controversial. The results show, that laparoscopic cholecystectomy is not contraindicated during pregnancy, however, as in open cholecystectomy it should be performed only in cases, where conservative management fails.

Acute Disease↗
PubMed1994

[Pneumothorax in laparoscopic cholecystectomy (II)].

This case report deals with pneumothorax during elective laparoscopic cholecystectomy in a young woman with no history of severe pulmonary disease. After inflating the capnoperitoneum, pulse oximetry and capnography raised suspicion of pneumothorax whereas the physical examination showed no irregularities. Surgical drapes provided a lack of information from percussion and auscultation. Changing respiratory parameters including the use of pressure-controlled ventilation in absence of tension pneumothorax enabled sufficient ventilation until the insertion of a chest tube. There were no further postoperative complications. Pulse oximetry, capnography and relaxometry proved helpful in monitoring. There may be a benefit from the use of pressure-controlled-ventilation in certain situations, if all changes in volume-controlled-ventilation fail.

Carbon Dioxide↗
PubMed1994

[Initial experience with endoscopic subfascial dissection of perforating veins in 100 interventions].

Progress in minimal invasive surgery made us look for a new concept to treat our patients with varicosis, which is one of the most frequent operations in our department. We changed our method from an epifascial ligation to an endoscopic subfascial dissection of the perforating veins (ESDP). This method was developed and first described by Hauer in 1985 [2]. Between March 1992 and May 1993 we treated 85 patients by this method, performing ESDP on 100 legs. In most of the cases the operation is combined with a classic Babcock's procedure, although it can be done isolated. Sectioning of the perforating veins needs special instruments and must be performed in partial deprivation of blood supply, which is produced by a sterile Löfqvist roller cuff [5]. The sectioning of the perforating veins through a small incision in the medial part of the lower leg allows a dissection of all perforating veins in the medial and dorsal sections of the lower leg. The subfascial procedure reduces delayed wound healing, especially in patients with trophic skin disorders. The operation in deprivation of blood supply allows smaller and therefore cosmetically better incisions also for the other subcutaneous varices.

Endoscopes↗
PubMed1994

[Complications after 1,000 laparoscopic cholecystectomies].

Between November 1990 and November 1993 we performed 1000 laparoscopic cholecystectomies. The conversion rate was 1%. Also the rate of relaparotomies was 1%. Postoperative complications occurred in 5%. Intraoperative problems are described and analysed. We had no bile duct injuries in our series. One 87-year-old patient died on the fourth postoperative day due to mesenterial ischaemia.

Adolescent↗
PubMed1993

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.

Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions. By means of various progressive PCR-based techniques hitherto a number of point mutations has been described that in most cases should cause premature translational termination. These data indicate a particular functional importance for the C-terminal region of dystrophin and consequently for its gene products Dp 71 and Dp 116. To screen for microheterogeneities in this gene region we applied PCR-SSCP analysis to exons 60-79 of twenty-six DMD/BMD patients without detectable deletions. The study identified seven point mutations and one intron polymorphism. Six point mutations, found in DMD patients, should cause premature translational termination. One point mutation, identified in a BMD patient, results in an amino acid exchange. Five of the DMD patients bearing a point mutation are mentally retarded suggesting that a disruption of the translational reading frame in the C-terminal region is associated with this clinical finding in DMD cases. Therefore our data raise the possibility, that Dp 71 and/or Dp 116, the C-terminal translational products of dystrophin, may be causally involved in cases of mental retardation that are associated with DMD.

Amino Acid Sequence↗
PubMed1992

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat in a sequence encoding a cAMP-dependent protein kinase. The normal copy number of 5-35 repeats is exceeded in DM patients, with the size of the expansion broadly correlating with the severity of symptoms experienced. In most families reported, the unstable DNA sequence has increased in size on transmission to affected offspring, thereby providing a molecular explanation for the phenomenon of anticipation in DM, i.e. an increase in the severity of symptoms associated with an earlier age at onset of the disease in successive generations of a family. Here we present the first reported case of a family where the transmission of the affected chromosome from father to son is accompanied by a reduction in the size of the triplet expansion, such that it falls within the normal range. As the son remains asymptomatic, this type of molecular event may provide an explanation for the incomplete penetrance of the disease phenotype reported for this disorder. The implications for genetic counselling of DM families and the mechanistic considerations of the trinucleotide instability are discussed.

Adult↗
PubMed1992

[Arterial occlusive disease after surgical treatment of fractures of the lower extremity].

Chronic arterial occlusive disease of the lower limb may complicate fracture treatment. In five cases, diagnosis of vascular disease was established when delayed fracture healing or skin gangrene occurred some weeks after operative fracture treatment. The diagnosis of vascular disease was made from the case history, examination of the patient and repeated pulse control at the feet. Arterial insufficiency will be worsened by long-term elevation of the leg and by fracture treatment with a cast or traction. Angiography is indicated, and quick vascular reconstruction is recommended. In one patient with known iliac occlusion (Leriche syndrome) we performed simultaneous vascular reconstruction and operative fracture treatment.

Aged↗
PubMed1992

[Ultrasound selection criteria for laparoscopic cholecystectomy].

Laparoscopic cholecystectomy was carried out in 340 patients in the period November 9, 1990, to November 8, 1991. Preoperatively sonographical selection was in use. Only in 3 cases it was necessary to convert to laparotomy and cholecystectomy (including one elective conversion). 80% of the patients admitted to the hospital with symptomatic gallstones could be treated by laparoscopic technique. There was no injury of the bile ducts. Most relevant criterias for sonographical selection are the following: Thickening of the wall of the gallbladder, diameter and number of the gallstones, position of the fundus of the gallbladder in relation to the caudal margin of the liver, diameter of the common bile duct and exclusion of intraabdominal adhesions by using a high-frequent ultrasound transducer. Sonographical criterias for exclusion are a completely stone-filled gallbladder, a scleroatrophic gallbladder, acute cholecystitis with wall-thickening without edema and extended intraabdominal adhesions in the right upper quadrant. Sensitivity of sonographical selection was 98.5%, specifity 97.6%.

Adolescent↗
PubMed1991

[The injury pattern in parachuting].

The typical injury in military parachuting is osseous or ligamentary injury of the ankle joint. When parachuting is done as a sport the risk of injury is highest in accuray jumping and formation jumping. Here; i too, most injuries involve the lower extremities. The overall risk for injury in parachuting is 1%-2%.

Accidents, Occupational↗