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Biomedical subjects

D Lacombe

Publications and source records attributed to D Lacombe.

160 records · Page 9Linked to original sources
PubMed1991

Proteus syndrome in 7 patients: clinical and genetic considerations.

The Proteus syndrome is a congenital hamartomatous disorder delineated in 1983. Because of its polymorphic appearance, the syndrome was named after the greek god Proteus whose name means much less than the polymorphous much greater than. Major clinical findings include hemi hypertrophy, macrodactyly, exostoses, scoliosis, epidermal nevi, haemangiomas, deeply rugated soles of the feet and a variety of deep and subcutaneous masses. We report on 7 new cases of Proteus syndrome. All reported cases have been sporadic. Therefore this syndrome could be due to the action of a dominant lethal gene surviving by mosaicism.

Adult↗
PubMed1991

Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.

The Noonan syndrome is a multiple congenital anomalies syndrome with variable expressivity and autosomal dominant inheritance. We report an observation of a newborn with Noonan syndrome and an unusual molluscoid cutaneous excess over the scalp that might represent a new skin manifestation in Noonan Syndrome rather than a consequence of lymphatic dysplasia.

Chromosome Aberrations↗
PubMed1990

Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.

The nevoid basal-cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant inherited disorder. Its clinical manifestations are multiple basal-cell nevi and cysts of the jaw along with skeletal anomalies and various combinations of numerous other defects. NBCCS is characterized by a marked propensity for developing cancers. One of the most frequently reported tumour is brain medulloblastoma. We are reporting two cases of NBCCS and medulloblastoma. A review of the case reports demonstrates certain prominent features of medulloblastoma associated with NBCCS. The patients generally are males, presenting at an unusually young age, under 5 or 2 years and show a longer survival rate. Its lay down to search for NBCCS in early medulloblastoma's, especially under 2 years.

Adolescent↗
PubMed1984

The development of extra-intestinal cycle of Trypanosoma cruzi in Triatoma infestans and Panstrongylus megistus.

By applying various histological techniques the results obtained were similar to those in Lacombe's previous publications referring to the development of Trypanosoma cruzi in haemolymph, the later penetration in the Malpighian tubes and their return to the digestive tract. Trypomastigotes and sphaeromastigotes are found in the promesenteron after two hours of feeding the insect with mice blood containing numerous Trypanosoma cruzi. Some parasites move to the promesenteron from postmesenteron and others from the haemolymph of the insect. The amastigotes form inside the haemocytes, multiply, occupying nearly all the cells of the haemolymph. The parasites liberated inside the Malpighian tubes move to the ampullae where they begin their growth. The parasites in epimastigote and trypomastigote forms cross the pyloric valve and adhere to the folds of the rectum.

Animals↗
PubMedDate not supplied

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

Child↗
PubMedDate not supplied

[Anatomy and histology of salivary glands of Triatominae].

Histological studies upon the salivary glands of ten species of triatomine bugs were performed looking for their number and structural organization in different genera. It was possible to evaluate the celular epithelium type of each gland, as well as the merocrine and apocrine secretions of the glands. Secretion run until the hilo and after to salivary pump and hypofaringe. The glandular components, D1, D2 and D3 are always present in the Triatoma, Panstrongylus and Diptelogaster but in Rhodnius there are only the first two pairs of glands. The salivary channels and the hilo are analyzed by histology. The whole pair D3 has a clear valve that regularizes the exit of the secretions to the hilo. According to the genus the valves appear in different locations. They have low and dense epithelium, and their nucleus are rich in chromatin. The secondary channels leaving these valves, are very different, with clear chitinous ringer, low level of chromatin in the nucleus and homogeneous cytoplasm.

Animals↗
PubMedDate not supplied

[Coffin-Lowry syndrome and hyperprolinemia].

BACKGROUND: The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by X-rays and kyphoscoliosis. Inheritance is probably X-linked dominant. Its early diagnosis is difficult. CASE REPORT: A 31 month-old boy was admitted for mental retardation. His weight and height were normal, but his facies showed telecanthus, anteverted nares and a prominent frontal region. His hands appeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers. She had moderate hyperprolinemia (391 mumol/l) without hyperglycinuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria. CONCLUSION: The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.

Abnormalities, Multiple↗