Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in approximately 50% of individuals with CdLS. Numerous chromosomal rearrangements have been reported in individuals with CdLS. These rearrangements may be causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the observed phenotype. We describe two half siblings with a der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. Region-specific BAC probes were used to fine-map the breakpoint region by fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 breakpoint distal to RP11-115G3 on 3p25.3; the chromosome 12 breakpoint is distal to BAC RP11-88D16 on 12p13.3. A review of published cases of terminal 3p deletions and terminal 12p duplications indicates that the findings in these siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic overlap with CdLS, we have reviewed the reported cases of chromosomal rearrangements involved in CdLS to better elucidate other potential loci that could harbor additional CdLS genes. Additionally, to identify chromosome rearrangements, genome-wide array comparative genomic hybridization (CGH) was performed on eight individuals with typical CdLS and without identifiable deletion or mutation of NIPBL. No pathologic rearrangements were identified.     

Electrophoretic analysis of Salmonella typhi and other bacteria

A comparative study involving SDS-PAGE of Salmonella typhi and other Bacteria was conducted. Protoplasmic antigens of Salmonella typhi. Salmonella paratyphi A, Salmonella typhimurium, Proteus sp, Klebsiellas sp. Pseudomonas aeruginosa, Shigella flexneri, Staphylococcus aureus were separated and compared on SDS-PAGE followed by checking of their cross reactivity by gel diffusion using antisera raised against whole cell and lysates of Salmonella typhi. Lines of identity between Salmonella typhi, Salmonella paratyphi A and Salmonella typhimurium were observed. No lines of identity were seen among Salmonella typhi, Pseudomonas aeruginosa and Sfaphylococcus aureus.     

Confidentiality and death

The duty of confidentiality in the normal doctor-patient relationship is well recognized. However, the duty of confidentiality between the pathologist who performs the autopsy and the requesting authorities and the next-of-kin is not as clearly spelt out. This article discusses the problems faced by the pathologist with regards to hospital and medico-legal autopsies in Malaysia. A proposed ethical guideline is included on how to deal with peculiar issues regarding confidentiality and the pathologist.     

Histopathological and ultrastructural alterations of induced Yersinia enterocolitica infection in mice

Yersinia enterocolitica is an enteric bacterium and infections by this organism are mostly foodborne. It has been implicated to cause enterocolitis, terminal ilitis. diarrhoea, mesenteric lymphadenitis and arthritis in man. Due to paucity of information regarding histopathological and specially ultrastructural alterations in tissues affected, this study was planned with mice as the experimental model. Nine pathogenic Y.enterocoliticaisolates were used to infect 80 albino mice by oral and intraperitoneal route. Pathological alterations were studied by light and electron microscopy. Histopathological examination of intestines showed severe edema, purulent enteritis, goblet cell hyperplasia infiltration of mononuclear cells, thickening of mucosa and necrosis of the tips of villi. Liver showed congestion, hepatocellular degeneration and necrosis, atrophy of hepatocytes and microabcesses. The lungs revealed congestion, edema, haemorrhage and purulent ronchopneumonia, while kidneys showed mild necrotic changes and bacterial emboli in glomeruli. Ultrastructural changes were indicative of mitochondrial degeneration and their loss in kidneys, membranous degeneration with formation of myelin figures in lungs and disorganization, disruption and bleb formation of microvilli in intestines. Y.enterocolitica caused significant histopathological and ultrastructural alterations in experimentally infected mice. Variation in pathogenicity of different strains of Y.enterocolitica was also observed.     

Effect of Nilzan and albendazole on the absorptive surfaces of Haemonchus contortus (Nematoda)--a histoenzymic study

Haemonchus contortus, incubated in 10 micrograms/ml and 50 micrograms/ml concentrations of Nilzan and albendazole in Tyrode solution were stained for histoenzymatic demonstration of various phosphatases, oxido-reductases and esterases. The intestine showed major alterations after drug treatments. The alkaline phosphatases (AkPase), adenosine triphosphatase (ATPase), glucose-6-phosphatase, succinic dehydrogenase (SDH), glutamate dehydrogenase (GDH), reduced nicotinamide adenine dinucleotide phosphate diaphorase and reduced nicotinamide adenine dinucleotide diaphorase showed a decreased activity in intestine after Nilzan treatment, whereas lactic dehydrogenase (LDH), glucose-6-phosphate dehydrogenase (G-6-PD) and monoamine oxidase resisted increased reaction. The albendazole treatment resulted in altered distribution pattern of the AkPase, ATPase, SDH, and GDH; while LDH, G-6-PD, and non-specific esterases exhibited slightly enhanced activity in the epithelium. The functional significance of these changes has been fully discussed.     

Comparison of rapid colorimetric method with conventional method in the isolation of Mycobacterium tuberculosis

The aim of the study was to evaluate two methods (colorimetric and conventional) for isolation of Mycobacterium tuberculosis. A total of 500 clinical specimens were processed by modified Petroff's method and then inoculated into MB/BacT-240 system bottles and on LJ medium slopes. The specimens included 242 sputum, 95 gastric aspirates, 47 pleural fluids, 45 CSF, 32 urine, 18 pus, 11 bronchoalveolar lavage, 3 tissue, 2 stool, 2 lymphnode specimens, 2 synovial fluid and 1 bronchial wash specimens. The isolation rate was 16.4% by the colorimetric method and 2.2% by the conventional method. The mean detection time was 16 days and 26 days respectively. Among 36 direct smear positive samples, 63.9%(23/36) and 30%(11/36) were positive by colorimetric and conventional methods respectively. Out of 464 direct smear negative samples 12.9%(60/464) and 0.6%(3/464) were positive by colorimetric and conventional methods respectively. Therefore, colorimetric method enables rapid detection leading to early diagnosis and drug susceptibility testing.