Case report: on the use of the HID-Ion AmpliSeq™ Ancestry Panel in a real forensic case.

In the absence of any other conclusive forensic evidence, DNA profiling is the method of choice for body identification. This study focuses on the case of a carbonized corpse whose complete autosomal short tandem repeat (STR) profile could not lead to direct identification by the investigators. To assist in the progress of investigation, we endeavoured to determine the biogeographical origin and eye colour of the deceased individual. Along with Y chromosome and mitochondrial DNA analyses, we applied a next-generation sequencing (NGS) approach to the study of ancestry informative markers (AIMs) using the HID-Ion AmpliSeq™ Ancestry Panel launched by Thermo Fisher Scientific. This work gave us the opportunity to test this new technology in a real forensic case. Although this study highlights the benefits of such a combined approach, as it markedly improves the specificity of the biogeographical profile, it also underlines the need for the accurate characterization of a larger collection of reference populations and the necessity of caution in data interpretation.

Differential Diptera succession patterns onto partially burned and unburned pig carrion in southeastern Brazil.

In the present contribution we compared the entomological succession pattern of a burned carcass with that of an unburned one. For that, we used domestic pig carcasses and focused on Calliphoridae, Muscidae and Sarcophagidae flies, because they are the ones most commonly used in Postmortem Interval estimates. Adult and immature flies were collected daily. A total of 27 species and 2,498 specimens were collected, 1,295 specimens of 26 species from the partially burned carcass and 1,203 specimens of 22 species from the control carcass (unburned). The species composition in the two samples differed, and the results of the similarity measures were 0.875 by Sorensen and 0.756 by Bray-Curtis index. The results obtained for both carcasses also differ with respect to the decomposition process, indicating that the post mortem interval would be underestimated if the entomological succession pattern observed for a carcass under normal conditions was applied to a carbonized carcass.

Colorectal adenocarcinoma in childhood and adolescent. Report of 11 cases and review of the literature.

Eleven new cases of colorectal carcinoma in children (0-15 years of age) are added to the 212 cases already described in the literature. Mucinous adenocarcinoma was the most frequent histological type. Acute abdominal obstruction was the most frequent presentation. A radiologic diagnosis of malignancy was made in only six of eleven cases. The interval between onset of clinical symptoms and diagnosis ranged from two days to one year. Duration of symptoms, pathologic findings, stage, and prognosis differed markedly as compared with adult colorectal carcinomas. In spite of its rarity, colorectal malignancies may occur in children.

Radiographic plain film and CT findings in lipoid pneumonia in infants following aspiration of mineral oil used in the treatment of partial small bowel obstruction by Ascaris lumbricoides.

Four children developed lipoid pneumonia following ingestion of mineral oil for the treatment of partial small bowel obstruction by Ascaris lumbricoides whorl. CT of the chest showed negative Hounsfield numbers which may prove useful in diagnosis.

Tumores renais primarios metastatizantes para osso na infancia. / Bone-metastasizing primary renal tumors in children

Sao discutidos sete casos de tumor renal na infancia com compromentimento osseo importante, tendo sido os seis primeiros casos ja submetidos a publicacao previa. Essas neoplasias haviam sido anteriormente classificadas como tumores de Wilms de caracteristicas atipicas. A revisao histologica, feita a luz dos novos conceitos, reclassificou-as como: tumor renal da infancia metastatizante para osso - TRIMO (tres casos), rabdomiossarcoma (um caso), sarcoma indiferenciado (dois casos) e neoplasia maligna indiferenciada (um caso)

Pneumonias lipoides exogenas na infancia. / Exogenous lipoid pneumonia in infants

Quatro casos de pneumonias lipoides em criancas que aspiraram oleo mineral sao apresentados. Em tres houve iatrogenia. Em todos o diagnostico foi estabelecido associando uma historia de ingestao de oleo com radiografias, mostrando infiltrados difusos que nao involuiram com a terapeutica. Houve confirmacao anatomopatologica em tres casos

Bone-metastasizing primary renal tumors in children.

Six cases of childhood renal tumor with extensive bone involvement are reported. The neoplasms had been classified originally as Wilms tumor with atypical clinical and pathologic features. Subsequent to a retrospective histologic analysis, the lesions were reclassified as follows: three cases as bone-metastasizing renal tumors of childhood, one case as rhabdomyosarcoma, one case as undifferentiated sarcoma, and one case as undifferentiated malignant neoplasm.

Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.

We report a brother and sister with Dyggye-Melchior-Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome--that with MR, and that without MR (Smith-McCort dysplasia) are rare autosomal recessives. Spinal cord injury and early death is a danger in both.

Rectourethral fistula on the urethrogram.

Radiologic demonstration of a rectourethral fistula is of importance in the evaluation of the male neonate with imperforate anus. After pull-through operation a remnant of the fistula may remain as a small unimportant sinus tract or may cause problems.

Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.

Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.