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S Di Mauro

Publications and source records attributed to S Di Mauro.

At least 19 recordsLinked to original sources
PubMed1994

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions.

Adult↗
PubMed1993

[Carcinoma of the gallbladder. State of the art].

The authors examine the most interesting data about gallbladder cancer. They emphasize the difficulties of an useful approach to this pathology: an early diagnosis is quite impossible and the surgical treatment very disappointing.

Female↗
PubMed1991

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.

Adult↗
PubMed1991

Clinical syndromes associated with ragged red fibers.

Among 40 patients with ragged red fibers in muscle biopsy, all but two met criteria for one of the recognized mitochondrial myopathies: Kearns-Sayre syndrome (6 patients); other ophthalmoplegias (17): MELAS (3); MERRF (2); limb myopathy (5); and exercise intolerance (3). Two patients had MNGIE (mitochondrial myopathy with neuropathy, gastrointestinal symptoms and encephalopathy) and one had spinal muscular atrophy. The myopathy had features of facioscapulohumeral dystrophy in 4 patients. This analysis provides 4 lines of evidence to reinforce the view that, despite occasional "overlap" cases, distinct syndromes can be recognized. First, there are clinical differences. Second, KSS is almost never familial but MELAS and MERRF are often familial. Third, in this series, as in others, all deletions of mtDNA were found in patients with either KSS or non-familial PEO. With a possible single exception, none of the familial cases had KSS and no familial cases included a deletion of mtDNA. Others have found evidence of mtDNA point mutations in MERRF, and maternal inheritance suggests that point mutations will be found in MELAS. Finally, postmortem findings differ in KSS, MELAS, and MERRF. For all of these reasons, we believe it is useful to separate cases on clinical grounds. Deletions and point mutations of mtDNA are becoming defining characteristics of these syndromes.

Adult↗
PubMed1991

[Breast feeding and pleasure].

Thirty-six Sicilian women (mean age 26.2 years, range 18-34) who had chosen to breastfeed their newborn babies were included in the study. A semi-structured questionnaire was used by a pediatrician to interview all subjects 4 months after the birth. 94.7% of the women interviewed (36 cases) said that they had derived pleasure from breastfeeding while 5.3% (2 cases) stated that they had not. 44.7% (15 cases) experienced strong uterine contractions (described ad "cramps") during breastfeeding (these were described as occurring "often" in ten cases and "rarely" in five cases); in 6 (35.3%) out of 17 patients "uterine cramps" were a cause of "pleasure", whereas in the rest (64.7%) they were described as "bothersome" (5 cases), "painful" (2 cases) or "indifferent" (4 cases). If sexual pleasure is derived from the breastfeeding one's offspring, it may be to a certain extent represent, together with the joy of bringing up children, a compensatory substitute for the couple's sex life following the change of the woman's centre of attention from the sexual pole to that of the continuation of the species.

Breast Feeding↗
PubMed1989

[Diagnostic and therapeutic considerations in early gastric cancer].

A ten-year series of early gastric cancer is reported, stress being laid on the diagnostic and therapeutic problems associated with the condition. The importance of intensified mass screening programmes, particularly in populations at risk, is underlined to enable these potentially dangerous conditions to be treated in time.

Adenocarcinoma↗
PubMed1989

[The inguinal hernia today. Technical notes].

Following a short introduction on Bassini's operation, alternative surgical techniques are discussed: Postempski, Halsted, Mugnai-Ferrari, Anson-McVay, Marcy, Ferguson, Shouldice with their indications, advantages and disadvantages. Personal experience in the surgical treatment of 516 patients suffering from inguinal hernia is then reported and stress is laid on the need for precise anatomic knowledge of the inguinal region and skill in one technique in particular to limit the risk of recurrences.

Adolescent↗
PubMed1989

[Prostaglandins and gastric cancer: a preliminary study].

As high levels of Prostaglandins E2 were observed in several gastric diseases, the Authors determined the PGE2 levels in gastric cancer patients without recurrences, in pre and post-operative period. PGE levels were correlated with cancer progression and their significance as tumoral markers was also assessed.

Adult↗