Idiopathic Brachial Plexus Neuritis After Laparoscopic Treatment of Endometriosis: A Complication That may Mimic Position-Related Brachial Plexus Injury

We report the case of a 37-year-old woman who developed idiopathic brachial plexus neuritis, also referred to as Parsonage-Turner syndrome, after laparoscopic excision of endometriosis. The differential diagnosis between this non–position-related neuritis and brachial plexus injury is discussed. The aim of this report was to raise awareness on this distressing postoperative complication.     

A systematic review and meta-analysis of randomized studies comparing misoprostol versus placebo for cervical ripening prior to hysteroscopy

Objective(s): Hysteroscopy is an effective method for examining the uterine cavity but has some limitations, including the occasional need for cervical dilatation. Misoprostol is routinely used for cervical dilatation in various procedures but has not gained wide acceptance for use before hysteroscopy. Study design: This review includes randomized controlled trials which compare the use of misoprostol versus placebo by different routes and doses before diagnostic or operative hysteroscopy. The MEDLINE database and the Cochrane Central Register of Controlled Trials were searched for articles published from January 1970 to April 2010. The outcome measures studied were related either to the facilitation of the hysteroscopic procedure (need for cervical dilatation, cervical width at the beginning of hysteroscopy, duration of the procedure and complications such as cervical tear and uterine perforation) or to the medication side-effects. With regard to side-effects, we studied the incidence of nausea, diarrhea, abdominal pain, bleeding, and fever. Results: Vaginal misoprostol reduced the need for cervical dilatation in the total population of pre- and post-menopausal women to a statistically significant degree. In the subgroup of operative hysteroscopy the need for dilatation and the duration of the procedure were also significantly reduced. Most other outcomes relating to the facilitation of the procedure did not reach statistical significance. The side effects in the misoprostol group were significantly more frequent than in the placebo group. Conclusion(s): There is insufficient evidence to recommend the routine use of misoprostol before every hysteroscopy. As the lack of serious benefit from misoprostol is unlikely to be due to type II error, its use should be reserved for selected cases.     

An evaluation of PGD in clinical genetic services through 3 years application for prevention of beta-thalassaemia major and sickle cell thalassaemia

PGD represents an alternative within prenatal diagnosis services, which avoids terminating affected on-going pregnancies. In Greece, prevention programmes for haemoglobinopathies, including the option of prenatal diagnosis, are well established. Following optimization of a single-cell genotyping strategy (designed to be applicable for the majority of beta-thalassaemia major or sickle thalassaemia genotype interactions) along with close collaboration with an IVF unit, we integrated the option of PGD for at-risk couples with a problematic reproductive history. A total of 59 couples requesting PGD were counselled, of whom 41 initiated 63 PGD cycles. Following standard assisted reproduction treatment for oocyte retrieval, 20 cycles were cancelled (too few oocytes and/or poor quality embryos), but in 43 cycles single blastomeres were biopsied from 3 day embryos and genotyped (total 302). Diagnosis was achieved for 236 embryos, and 100 of 125 unaffected embryos were transferred. Sixteen pregnancies were established, although six were lost within the first trimester. Ten pregnancies underwent second trimester prenatal diagnosis, with nine pregnancies (13 babies: six singletons, two twins and one triplet) confirmed unaffected, although one singleton was a PGD misdiagnosis and terminated. The triplet pregnancy was selectively reduced to twins, and nine pregnancies went to term, with 12 healthy babies born. This report highlights advantages, limitations and approaches towards improvement when incorporating PGD within genetic services for a common recessive disease.     

Late-onset and typical Huntington disease families from Crete have distinct genetic origins

HD families in which late-onset occurs consistently in affected members are rare. The objectives of this work was to study such late-onset HD families encountered on Crete, and to trace their genetic origin. Nine late-onset HD kindreds (61 affected members) were studied along with two typical HD families (17 affected members). We genotyped 33 late-onset Cretan HD chromosomes, 9 Cretan typical HD chromosomes and 114 Cretan control chromosomes using 14 STR markers and 20 SNPs that map to 4p16.3. In contrast to the typical HD pedigrees, the late-onset HD families lacked anticipation and juvenile cases. The expanded CAG repeat (36-42 units) in these families remained either stable or it showed small increment instability, even when transmitted through the father. All late-onset HD chromosomes shared a conserved haplotype defined by the markers D4S95: 1090, D4S127: 157, rs362277: A, rs3025814: G, rs2530596: A that span a 0.277-Mb segment on 4p16.3. Coalescence analysis traced this haplotype to a founder who lived about 1000 years ago. In contrast, each of the two typical HD disease pedigrees derived from a different founder. Sequencing of a 5-kb DNA segment immediately upstream of the HD gene revealed a novel single nucleotide polymorphism at -1757 bp relative to the translation start site, which was more prevalent in Cretan than in North American chromosomes. All late-onset HD families on Crete arose from a common founder with the disease's mutation evolving over the centuries via small-increment instability. These findings suggest that cis-acting factors may be operational.     

Serologic versus molecular testing for screening for hepatitis C virus infection in patients with hematologic malignancies

Testing for antibody against hepatitis C virus (anti-HCV) is a low-cost diagnostic method worldwide; however, an optimal screening test for HCV in patients with cancer has not been established. We sought to identify an appropriate screening test for HCV infection in patients with hematologic malignancies and/or hematopoietic cell transplants (HCT). Patients in our center were simultaneously screened using serological (anti-HCV) and molecular (HCV RNA) assays (February 2019–November 2019).In total, 214 patients were enrolled in this study. Three patients (1.4%) were positive for anti-HCV, and 2 (0.9%) were positive for HCV RNA. The overall percentage agreement was 99.5% (95% CI: 97.4–99.9). There were no cases of seronegative HCV virus infection. The positive percentage agreement was 66.7% (95% CI: 20.8–93.9), and the negative percentage agreement was 100.0% (95% CI: 98.2–100.0). Cohen kappa coefficient was 0.80 (95% CI: 0.41–1.00, P < .0001).The diagnostic yield of screening for chronic HCV infection in patients with cancer is similar for serologic and molecular testing.     

Clinically reliable cognitive decline in relapsing remitting multiple sclerosis: Is it the tip of the iceberg?

ABSTRACT

Objectives

Cognitive impairment is common in multiple sclerosis, but the brain MRI correlates in relapsing remitting multiple sclerosis remain controversial. The current study aimed to investigate whether cognitive decline can be predicted by global and/or regional brain atrophy.