Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure

Objective

To evaluate the prevalence of FMR1 premutations and X chromosome cytogenetic abnormalities in a large cohort of Tunisian women with premature ovarian failure (POF).

Patients and methods

The cohort consisted of 127 Tunisian women with POF referred by endocrinologists and gynecologists for genetic investigation in the context of idiopathic POF and altered hormonal profiles. Clinical information concerning the reproductive function in the family, previous hormonal measurements and/or possible fertility treatment were collected. Karyotype, FISH analyses, FMR1 and FMR2 testing were performed for all patients.

Results

Fifteen patients (11.81%) presented structural or numerical X chromosomal abnormalities. Moreover, we detected in 12 patients (10.71%) a high level of X mosaicism. Analysis of FMR1 gene in the 100 patients without X chromosomal abnormalities showed that five percent of the patients carried a FMR1 premutation allele. On the other hand, the FMR2 screening did not reveal any deletion.

Conclusion

Our study confirms the major role of X chromosome abnormalities in POF and highlights the importance of karyotype analyses and FMR1 screening. These investigations provide valuable information for diagnosis and genetic counseling for these women who still have a 5% chance of spontaneous conception.     

‘I’ve put diabetes completely on the shelf till the mental stuff is in place’. How patients with doctor-assessed impaired self-care perceive disease,self-care,and support from general practitioners. A qualitative study

Objective: This paper investigated patients’ experiences of disease and self-care as well as perceptions of the general practitioner’s role in supporting patients with impaired self-care ability.

Design: Qualitative interviews with 13 patients with type 2 diabetes, concurrent chronic diseases, and impaired self-care ability assessed by a general practitioner. We analyzed our data using systematic text condensation. The shifting perspectives model of chronic illness formed the theoretical background for the study.

Results: Although most patients experienced challenges in adhering to recommended self-care activities, many had developed additional, personal self-care routines that increased wellbeing. Some patients were conscious of self-care trade-offs, including patients with concurrent mental disorders who were much more attentive to their mental disorder than their somatic diseases. Patients’ perspectives on diseases could shift over time and were dominated by emotional considerations such as insisting on leading a normal life or struggling with limitations caused by disease. Most patients found support in the ongoing relationship with the same general practitioner, who was valued as a companion or appreciated as a trustworthy health informant.

Conclusion: Patient experiences of self-care may collide with what general practitioners find appropriate in a medical regimen. Health professionals should be aware of patients’ prominent and shifting considerations about the emotional aspects of disease. Patients valued the general practitioner’s role in self-care support, primarily through the long-term doctor-patient relationship. Therefore, relational continuity should be prioritized in chronic care, especially for patients with impaired self-care ability who often have a highly complex disease burden and situational context.

• Key points

• Little is known about the perspectives of disease and self-care in patients with a doctor-assessed impaired ability of self-care.

• ??Although patients knew the prescribed regimen they often prioritized self-care routines that increased well-being at the cost of medical recommendations.

• ??Shifting emotional aspects were prominent in patients’ considerations of disease and sustained GPs’ use of a patient-centred clinical method when discussing self-care.

• ??Relational continuity with general practitioners was a highly valued support and should be prioritized for patients with impaired self-care.

     

Sentinel node biopsy in breast cancer: Time has come to systematically perform it before planned axillary clearance

Sentinel lymph node biopsy is a simple and relatively safe technique that emerged as a standard in the management of early breast cancer. Indications are becoming larger and because this particular node provides significant epidemiological, clinical, pathological, educational and prognostic information efforts must be done to identify it even when a a complete axillary clearance is planned.     

Flavonoid glycosides from<Emphasis Type="Italic">Prunus armeniaca</Emphasis> and the antibacterial activity of a crude extract

Investigations on the chemical constituents of the fruits of Prunus armeniaca have led to the isolation of two new flavonoid glycosides, 4',5,7-trihydroxy flavone-7-O-[beta-D-mannopyranosyl (1'-->2")]-beta-D-allopyranoside (1) and 3,4',5,7-tetrahydroxy-3',5'-di-methoxy flavone 3-O-[alpha-L-rhamnopyranosyl (1'-->6")]-beta-D-galactopyranoside (2), from the butanolic fraction of the fruits. The butanolic extract exhibited antibacterial activity against both Gram positive and Gram negative bacteria. The structures of these compounds were elucidated through spectral studies, including 2D-NMR (COSY, NOESY, J-resolved), HMQC and HMBC experiments.     

Failure of transverse sinus dural fistula embolization using ethanol injection

This is a case report of successful arterial embolization of a dural fistula using absolute alcohol. In this two-part embolization of a dural fistula of the left sagittal venous sinus, the use of n-BCA (n-butyl-cyanoacrylate) was followed by 1 ml of absolute alcohol four months later. The first procedure, using n-BCA via the external carotid, permitted exclusion of the arterial supply coming from the medial meningeal and occipital arteries. Persistence of the blood supply through the internal carotid prompted us to perform the second procedure, to occlude the tentorium marginalis artery, using 1 ml of 95% ethanol. This was followed by a cranial nerve (III) palsy that was reversible. The three-month follow-up was satisfactory, although arteriography after one year showed revascularization of the fistula, which was successfully treated by Onyx. Routinely used in the treatment of superficial vascular malformations, the use of absolute alcohol intracerebrally appears to be unreliable, with results that were only temporary.     

Detection of Two Rare β-Thalassemia Alleles Found in the Tunisian Population: Codon 47 (+A) and Codons 106/107 (+G)

We here present the first report of the detection of two rare β⁰-thalassemia (thal) mutations in the Tunisian population: codon 47 (+A) and codons 106/107 (+G). To the best of our knowledge this is the second report of the codon 47 (+A) mutation, the first being identified in a Surinamese subject. The codons 106/107 (+G) mutation was first described in American Blacks, subsequently in Egyptians and Palestinians, and now in Tunisians. These mutations were detected by denaturing gradient gel electrophoresis (DGGE) screening followed by automated nucleotide sequencing. The former was found in two related β-thal major patients in the homozygous state, while the latter was identified in a homozygous state in a transfusion-dependent β-thal subject and in a sickle cell β-thal patient. Both mutations are in linkage disequilibrium with haplotype V and sequence framework 2. Given the known wide spectrum of β-thal alleles in the Tunisian population, the present report further confirms such heterogeneity. The knowledge of an updated spectrum of β-thal alleles in Tunisia must allow the implementation of a more efficient screening strategy for genetic counseling and prenatal diagnosis.     

Microbial quality assessment of some street food widely consumed in Ouagadougou,Burkina Faso

The major part of the population of Ouagadougou, Burkina Faso, have their breakfast, dinner and lunch in street food shops. The characteristics of street food vendors are indicated. It appeared clearly that women play a major part (75%) in street food sale. Vendors have only a slight knowledge of food processing and of hygienic practices. There is a high proportion (about 50%) of people among them. This dietary habit has some negative aspects on the consumers' health. Ours studies clearly showed that hygienic practices during sales operations are not respected by all categories of vendors of food products. Also, it was observed that street food vendors sometimes sit close to the waste water drainage system and solid wastes. Sometimes, the food is not covered and it is manipulated by consumers in areas infested by flies and others insects. The water used to wash the materials is of poor quality. The second aspects of our studies showed that, in most cases, when the safety and hygienic practices were not respected, the food became a true microorganism culture medium under tropical climatic conditions. A table reports microbial analysis and contamination rates of some important street foods consumed in Ouagadougou. In general these results showed the failure of microbial quality of some food which is not preheated (milk product, fruit juice, vegetable, fruit) and in the case of food which is not reheated after a long time of exposition (dry meat and meat on sticks). The presence of Salmonella and Shigella species in some food represents a serious danger for consumers. These aspects were observed with most street food vendors. It probably makes street food the source of most diseases caused by bacteria and other microorganisms.