UNERTAN SYNDROME: A CASE SERIES DEMONSTRTAING HUMAN DEVOLUTION

A large family with six individuals exhibiting the Unertan syndrome (UTS) was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities. The intra-familial marriages suggested that the UTS is an autosomal recessive disorder. The inferior portions of the cerebellum and vermis were absent as evidenced by MRI and CT scans. The height and head circumference of those affected were within normal ranges. Barany’s test suggested normal vestibular system function. The subjects could not name objects or their close relatives. The males (n = 4) could understand simple questions, answering them with only one or two sounds. The females (n = 2) were superior to the males with respect to language skills and walking, suggesting an association between walking and speaking abilities. One male exhibited three walking patterns at the same time: quadripedal, tiptoe, and scissor walking. Another male used two walking styles: quadripedal and toe-walking. It is emphasized that there are important differences between the UTS and the disequilibrium syndrome (DES). It is suggested that the inability to walk upright in those affected with the UTS may be best explained by a disturbance in lateral-balance mechanisms. An interruption of locomotor development during the transition from quadripedality to bipedality may result in habitual walking on all four extremities and is normal in some children. Since quadripedal gait is an ancestral trait, individuals with the UTS, exhibiting a manifestation of reverse evolution in humans, may be considered an experiment of nature, useful in understanding the mechanisms underlying the transition from quadripedality to bipedality during human evolution. The proposed mutant gene or gene pool playing a role in human quadrupedality may also be responsible for human bipedality at the same time. Herein there is no intent to insult or injure, rather this report is an endeavor to better understand human beings

Is there a relationship between HMGB1 levels and clinical conditions of patients tested positive for COVID-19?

Severe COVID-19 may be complicated by acute respiratory distress syndrome, sepsis and septic shock, which can lead to death. These life-threatening conditions are supposed to be the outcome of immune system overactivity, which causes cytokine storm syndrome and multiple organ failure. High mobility group box-1 (HMGB1) is one of the damages associated with molecular model molecules (DAMPs), which plays a role in the pathogenesis of various inflammatory diseases and infections where many studies have been conducted. In this study, the role of HMGB1 in COVID-19 positive cases, which could be considered a potential diagnosis and treatment method, is investigated. COVID-19 patients, who were hospitalized to our clinic in Sanko University Hospital, were included in this study. Blood samples were taken from patients to measure their HMGB1 level which was then compared with their clinical severity. It is observed that HMGB1 levels rise in COVID-19 patients when compared to the control group, but the severity of the illness does not get particularly affected by their HMGB1 levels. [Med-Science 2022; 11(4.000): 1398-401

Unertan syndrome: A case series demonstrating human devolution

A large family with six individuals exhibiting the Unertan syndrome (UTS) was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities. The practice of intra-familial marriages suggested that the UTS may be an autosomal recessive disorder, similar to previously described cases. The inferior portions of the cerebellum and vermis were absent as evidenced by MRI and CT scans. The height and head circumference of those affected were within normal ranges. Barany's test suggested normal vestibular system function. The subjects could not name objects or their close relatives. The males (n = 4) could understand simple questions and commands, but answered questions with only one or two sounds. The females (n = 2) were superior to the males with respect to language skills and walking, suggesting an association between walking and speaking abilities. One male exhibited three walking patterns at the same time: quadripedal, tiptoe, and scissor walking. Another male used two walking styles: quadripedal and toe-walking. It is emphasized that there are important differences between the UTS and the disequilibrium syndrome. It is suggested that the inability to walk upright in those affected with the UTS may be best explained by a disturbance in lateral-balance mechanisms, without being related to the cerebello-vestibular system. An interruption of locomotor development during the transition from quadripedality to bipedality may result in habitual walking on all four extremities and is normal in some children. Because quadripedal gait is an ancestral trait, individuals with the UTS, exhibiting a manifestation of reverse evolution in humans. may be considered an experiment of nature, useful in understanding the mechanisms underlying the transition from quadripedality to bipedality during human evolution. The proposed mutant gene or gene pool playing a role in human quadrupedality may also be responsible for human bipedality at the same time. Herein there is no intent to insult or injure; rather, this report is an endeavor to better understand human beings. Supplementary materials are available for this article. Go to the publisher's online edition of International Journal of Neuroscience for the following free supplemental resource(s): video clips

The Relationship of Frequency and Intensity of Bleeding with Hemophilic Arthropathy in Hemophilia Patients, Radiological Assesment and Socio-Economic Impacts of the Arthropathy

Hemophilic arthropathy is the most common complication of hemophilia, and the most important element for follow-up and treatment of hemophilia. In this study, hemophilic arthropathy was evaluated for bleeding, radiological assessment, and physical examination. Besides, socio-economic outcomes of hemophilic arthropathy and its impacts on quality of life were also investigated. Forty male patients diagnosed with hemophilia in the Hematology Unit of Gaziantep University Medical Faculty were included in the study. Of the 40 patients, 34 had hemophilia A and 6 had hemophilia B; 20 (50%) had severe, 8 (20%) had moderate and 12(30%) had mild hemophilia. According to our data collected in this study, there was a close relationship between hemophilic arthropathy and factor level. It was detected that the factor level and frequency of bleeding (p < 0.05), functional assessment of joints (p < 0.05) and scores of radiological assessment (p < 0.05) was negatively correlated. Frequency of joint bleeding during one-year period had a significantly positive correlation with functional assessment of joints (p < 0.01) and scores of radiological assessment (p < 0.01). It was observed that quality of life impaired in advanced arthropathy patients whose physical examination and radiological assessment scores were high among those who had more frequent bleedings. In addition, with increased frequency of bleeding, factor consumption and treatment costs are also increasing. Hemophilic arthropathy is a serious disease that imposes a large economic burden on patients and society. The full treatment of the disease may only be possible if the treatment is started at an early age and during this period it is crucially important to prevent joint blpedings, rehabilitate disabilities, and to introduce patients into society