Distal Radial Artery Access in comparison to Forearm Radial Artery Access for Cardiac Catheterization: A Randomized Controlled Trial (DARFORA Trial).

Background: In our clinical practice, conventional radial access has been employed routinely for coronary procedures. The distal radial artery (DRA) access site has recently emerged as a novel technique in cardiac procedures. Objectives: This study compares distal radial access to standard forearm radial access (FRA) in terms of feasibility, outcomes, and complications. Method: This prospective, randomized trial was conducted at a single center. The patients were chosen from An-Najah National University Hospital's catheterization laboratory between December 2019 and November 2020. A total of 209 patients were randomized into two groups: DRA group (n = 104) and FRA group (n = 105). Results: Access was successful in 98% of patients in both the groups. The DRA group had a longer puncture duration and a higher number of attempts (duration: 56.6 ± 61.1 s DRA vs. 20.0 ± 18.4 s FRA, p < 0.001, attempts: 1.9 ± 1.3 DRA vs. 1.2 ± 0.60 FRA, p < 0.001). Puncture-associated pain was greater in the DRA group (4 ± 2.2 DRA vs. 3 ± 2.1 FRA, p=0.001). There were two radial artery occlusions in the FRA group and none in the DRA group (p=0.139). Percutaneous coronary intervention (PCI) was performed in 26% of the DRA group and 37.1% of the FRA group. The DRA group had significantly shorter procedure times (p=0.006), fluoroscopy times (p=0.002), and hemostasis times (p=0.002). Over time, the learning curve demonstrated improved puncture duration and a decrease in the number of puncture attempts. Conclusions: DRA is a safe and practical alternative to FRA for coronary angiography and intervention. The overtime learning curve is expected to improve puncture-related outcomes.

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common forebrain malformation. The etiology of HPE is complex and multifactorial. To date, at least 12 HPE-associated genes have been identified, including TGIF (transforming growth factor beta-induced factor), located on chromosome 18p11.3. TGIF encodes a transcriptional repressor of retinoid responses involved in TGF-ß signaling regulation, including Nodal signaling. TGIF mutations are reported in approximately 1-2% of patients with non-syndromic, non-chromosomal HPE. We combined data from our comprehensive studies of HPE with a literature search for all individuals with HPE and evidence of mutations affecting TGIF in order to establish the genotypic and phenotypic range. We describe 2 groups of patients: 34 with intragenic mutations and 21 with deletions of TGIF. These individuals, which were ascertained from our research group, in collaboration with other centers, and through a literature search, include 38 probands and 17 mutation-positive relatives. The majority of intragenic mutations occur in the TGIF homeodomain. Patients with mutations affecting TGIFrecapitulate the entire phenotypic spectrum observed in non-chromosomal, non-syndromic HPE. We identified a statistically significant difference between the 2 groups with respect to inheritance, as TGIF deletions were more likely to be de novo in comparison to TGIF mutations (χ(2) ((2)) = 6.97, p(permutated) = 0.0356). In addition, patients with TGIF deletions were also found to more commonly present with manifestations beyond the craniofacial and neuroanatomical features associated with HPE (p = 0.0030). These findings highlight differences in patients with intragenic mutations versus deletions affecting TGIF, and draw attention to the homeodomain region, which appears to be particularly relevant to HPE. These results may be useful for genetic counseling of affected patients.

Severe lymphopenia in tuberculosis. A mere coincidence or a significant association?

A variety of infectious agents can cause secondary immunodeficient states. We herein present a one-year-old patient, admitted to the hospital with severe lymphopenia, who was subsequently diagnosed as tuberculosis. After the antituberculosis (anti TB) therapy was started, the clinical condition and the immunologic findings of the patient improved. We have thus concluded that the transient lymphopenia of the patient was due to Mycobacterium tuberculosis. We suggest that immunodeficiency should be investigated more often in children with tuberculosis and that further studies will shed light on the pathogenesis of this aspect of the disease.

Iodine deficiency in Turkey.

UNLABELLED: Turkey is an iodine deficiency area. The overall goitre prevalence is thought to be 30%, and most epidemiological studies give figures compatible with mild to moderate iodine deficiency. However, it is suspected that there are regions where iodine deficiency might be more severe than previously known. In this study the goitre prevalence and iodine status in a mountain village in Central Anatolia were investigated and the results compared to those of an urban area with mild iodine deficiency. Parameters of iodine status in the mountainous region showed severe iodine deficiency comparable to that in Central Africa. It seems that there are regions in Turkey where current programmes of salt iodization will be inadequate to correct the problem of iodine deficiency. CONCLUSIONS: Our observations suggest that regional variations in iodine status may impede the success of salt iodization programmes, which alone may not be adequate for correction of the problem country-wide. Alternative sources of iodine should be considered in addition to expanded and more efficient salt iodization programmes.

Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome).

Leri-Weill dyschondrosteosis is an autosomal dominant syndrome of which the characteristic features are mild-to-moderate shortness of stature and Madelung deformity of the wrist. The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly in the middle than in the proximal and distal segment of the extremities. In this paper, we present two sisters with Langer mesomelic dysplasia (12 years and 6 months of age, respectively), from consanguineous parents. The mother of our cases had Madelung deformity. Father, mother and grandmother also had a slight deformity of both forearms. Unfortunately, despite the well documented case of the older sister with Langer mesomelic type dysplasia, the first and second trimester ultrasonographies of the younger sister were performed by inexperienced staff of a local urban hospital and the prenatal diagnosis of this case was not made. In this paper, we also discuss the prenatal diagnosis of Langer type mesomelic dysplasia.

The megacystis-microcolon-intestinal hypoperistalsis syndrome: report of a case and review of the literature.

The megacystis-microcolon-intestinal hypoperistalsis syndrome is part of a spectrum of intestinal motility disorders and is characterized by abdominal distension, lax abdominal musculature, incomplete intestinal rotation, microcolon, megacystis, bilious vomiting and decreased or absent intestinal peristalsis. In this report a newborn girl with megacystis-microcolon-intestinal hypoperistalsis syndrome is reported.