Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along microtubules, are responsible for an exceedingly rare autosomal dominant spinal muscular atrophy type 2A which starts in the childhood and predominantly effects lower extremities. Recently, a more severe form, type 2B, has also been described. Here, we present a patient born to a consanguineous union and who suffered from intellectual disability, speech delay, epilepsy, happy facial expression, truncal obesity with tappering fingers, and joint hypermobility. Whole-exome sequencing analysis revealed a rare, homozygous missense mutation (c.731T>C; p.Leu244Pro) in BICD2 gene. This finding presents the first report in the literature for homozygous BICD2 mutations and its association with a Cohen-Like syndrome. Patients presenting with Cohen-Like phenotypes should be further interrogated for mutations in BICD2.

Pathogenicity determinants and antibiotic resistance profiles of enterococci from foods of animal origin in Turkey.

In this study, the presence of genes responsible for the pathogenicity and antibiotic resistance profile of enterococci isolated from various foodstuffs of animal origin was investigated. The percentage prevalence of enterococci was 54.1% (203/375) and the average count was found to be 3.81 log cfu/ml-g. Species-specific primers revealed Enterococcus faecalis as the predominant species carrying one or more virulence-associated traits of efa, gelE, ace, esp and agg genetic markers. Only one E. faecium isolate (from milk) was positive for the esp gene. Regarding antibiotic resistance, the highest frequency of resistance was observed for tetracycline (21.7%), followed by quinupristin/dalfopristin (13.3%), ciprofloxacin (2.0%), penicillin (2.0%), linezolid (1.0%), ampicillin (1.0%), streptomycin (1.0%), and gentamicin (0.5%). Enterococcus faecalis showed a higher prevalence of antibiotic resistance than other enterococci. The percentage of multidrug resistance among the isolates was 3.4%. Twenty-nine E. faecalis isolates (26.6%) carrying one of the virulence-associated traits were at the same time resistant to at least one antibiotic. Our results show that foods of animal origin, including ready-to-eat products, may be reservoirs of antibiotic-resistant and potentially virulent enterococci.

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Adaptor protein complex-4 (AP4) is a component of intracellular transportation of proteins, which is thought to have a unique role in neurons. Recently, mutations affecting all four subunits of AP4 (AP4M1, AP4E1, AP4S1, and AP4B1) have been found to cause similar autosomal recessive phenotype consisting of tetraplegic cerebral palsy and intellectual disability. The aim of this study was analyzing AP4 genes in three new families with this phenotype, and discussing their clinical findings with an emphasis on neuroimaging and facial features. Using homozygosity mapping followed by whole-exome sequencing, we identified two novel homozygous mutations in AP4M1 and a homozygous deletion in AP4B1 in three pairs of siblings. Spastic tetraplegia, microcephaly, severe intellectual disability, limited speech, and stereotypic laughter were common findings in our patients. All patients also had similar facial features consisting of coarse and hypotonic face, bitemporal narrowing, bulbous nose with broad nasal ridge, and short philtrum which were not described in patients with AP4M1 and AP4B1 mutations previously. The patients presented here and previously with AP4M1, AP4B1, and AP4E1 mutations shared brain abnormalities including asymmetrical ventriculomegaly, thin splenium of the corpus callosum, and reduced white matter volume. The patients also had hippocampal globoid formation and thin hippocampus. In conclusion, disorders due to mutations in AP4 complex have similar neurological, facial, and cranial imaging findings. Thus, these four genes encoding AP4 subunits should be screened in patients with autosomal recessive spastic tetraplegic cerebral palsy, severe intellectual disability, and stereotypic laughter, especially with the described facial and cranial MRI features.

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in PAPSS2. In a single Turkish patient also hyperandrogenism was reported. We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in PAPSS2. Plasma levels of dehydroepiandrosterone (DHEA) and androstenedione were normal, but DHEA sulfate levels were low in four of the patients. Two patients and a mother had history of pubertal hyperandrogenism. Testosterone level was mildly elevated in one of the female patients, and insulin resistance was not detected in any of the patients. The patients also had precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies, none of which has been reported previously in this entity.

Impaired Perceptions and Conspiracy Beliefs about the Way of Emergence of the COVID-19 Infection.

This study aimed to reveal the perceptions and conspiracy theories surrounding the new coronavirus infection. We aimed to explore associations between COVID-19 conspiracy beliefs with recommended health protective attitudes and sociodemographic features among the Turkish population. A questionnaire consisting of seven items about COVID-19 conspiracy theories and perceptions and ten items about attitudes was given to patients and their relatives in five different centres during the second national lockdown in Istanbul. A chi-square test was used to evaluate the associations of disease perceptions and conspiracy beliefs with sociodemographic features and with health protective attitudes. Logistic regression analysis was performed for significant results. Of 483 participants, 242 (50.1%) were found to have a conspiracy belief. Conspiracy theories were more frequent in the participants who were older than 50 years of age (p = 0.009) (OR: 1.83) and less frequent in higher education levels (p = 0.005) (OR: 0.499). In addition, 6.6% of the participants were infected with COVID-19, but having the infection was found to have no effect on disease perceptions or conspiracy beliefs. Wearing a mask in crowds, avoiding shaking hands and kissing, and washing hands were less frequent among conspiracy believers and participants with impaired perceptions. These results indicate that misconceptions and conspiracy beliefs are driving the adoption of disinformation about the prevention of COVID-19 infection.

Biochemical assessments of retinol, alpha-tocopherol, pyridoxal--5-phosphate oxidative stress index and total antioxidant status in adolescent professional basketball players and sedentary controls.

Physical training is known to increase the antioxidant defence system and reduce exercise-induced oxidative stress. However, intense physical aerobic and anaerobic training with competition, such as those imposed on young professional basketball players can induce an increase of oxidative stress, which can be implicated with overtraining. The aim of this study was to test the effect of training and competition load on oxidative stress, antioxidant status, and vitamin levels in basketball players. Oxidative Stres Index (OSI 1), Total Peroxide (TPx) antioxidant (vitamin E, A and The total antioxidant status (TAC 1)), biochemical lipid parameters, as well as training results were measured. Results showed that all plasma vitamin levels were significantly higher in basketball players (vitamin A: 1.61 +/- 0.05 mmol/l, vitamin E: 26.45 +/- 0.72 mmol/l, vitamin B6: 10.58 +/- 0.7 mgr/l) than sedentary controls (vitamin A: 1.22 +/- 0.04 mmol /l, vitamin E: 19.24 +/- 0.73 mmol/l, vitamin B6: 6.0 +/- 0.35 mgr/l) (p < 0.01). In addition TAC 1 was 2.06 +/- 0.02 and 1.89 +/- 0.01 mmol Trolox eq/L in basketball players and controls, respectively (p < 0.01). Conversely OSI was 0.89 +/- 0.09 arbitrary unit and 0.88 +/- 0.071 arbitrary unit in basketball players and controls, respectively (p > 0.05). However, total plasma peroxide level (TPx) of basketball players and controls was not statistically different (18.55 +/- 2.07 and 17.18 +/- 1.61 micromol H2O2/L, respectively; p > 0.05). We conclude that physical exercise increase antioxidant levels and cause balance of the homeostasis. Training can not have positive or negative effects on oxidative stress depending on training load. The results suggested that oxidative stress and antioxidant measurement are significant in the biological follow-up of young basketball players.

Successful treatment of ligneous conjunctivitis with topical fresh frozen plasma in an infant.

A 6-month-old female infant presented to our clinic with bilateral eyelid swelling, yellowish-white membranes under both lids, and mucoid ocular discharge. Her aunt had similar ocular problems that were undiagnosed. The conjunctival membranes were excised and histopathological investigation of these membranes showed ligneous conjunctivitis. Further, laboratory examination revealed plasminogen deficiency. A good response was observed to topical fresh frozen plasma (FFP) treatment without systemic therapy, and the membranes did not recur during the treatment. Topical FFP treatment may facilitate rapid rehabilitation and prevent recurrence in patients with ligneous conjunctivitis.

Successful treatment of ligneous conjunctivitis with topical fresh frozen plasma in an infant / Sucesso do tratamento da conjuntivite lenhosa com uso tópico de plasma fresco congelado em uma criança

ABSTRACTA 6-month-old female infant presented to our clinic with bilateral eyelid swelling, yellowish-white membranes under both lids, and mucoid ocular discharge. Her aunt had similar ocular problems that were undiagnosed. The conjunctival membranes were excised and histopathological investigation of these membranes showed ligneous conjunctivitis. Further, laboratory examination revealed plasminogen deficiency. A good response was observed to topical fresh frozen plasma (FFP) treatment without systemic therapy, and the membranes did not recur during the treatment. Topical FFP treatment may facilitate rapid rehabilitation and prevent recurrence in patients with ligneous conjunctivitis.

RESUMOUma criança feminina com seis meses de idade se apresentou à nossa clínica com edema palpebral bilateral, membranas brancas amareladas sob as pálpebras de ambos os olhos e descarga mucosa. Sua tia já havia apresentado problemas oculares semelhantes que não foram diagnosticados. As membranas conjuntivais foram excisadas e a investigação histopatológica das membranas demonstraram conjuntivite lenhosa. O diagnóstico de deficiência de plasminogênio foi obtido a partir de um exame laboratorial. Tratamento tópico com plasma fresco congelado (FFP) sem qualquer terapia sistêmica mostrou boa resposta. Não foram observadas recorrências das membranas. O tratamento tópico com FFP pode ajudar a reabilitação rápida e prevenir a recorrência em pacientes com conjuntivite lenhosa.