The Complexity of Making a Diagnosis

CASE: Carl is a 12-year-old boy midline, with neurologic malformation, ataxia, bilateral strabismus with presumed residual visual impairment after surgical repair, and intellectual disability. He was referred to developmental-behavioral pediatrics for evaluation of possible autism spectrum disorder (ASD). Carl had a benign prenatal course and was born via spontaneous vaginal delivery at term. Bilateral strabismus was noted at birth. Despite surgery to address strabismus, Carl continues to be unable to raise his eyes above midline, and his visual status, including visual acuity, depth perception, color perception, and visual fields, is unclear. A recent auditory brainstem response evaluation was consistent with normal hearing. Multiple variants of undetermined significance were reported on chromosomal microarray. Magnetic resonance imaging of the brain demonstrated multiple malformations in the brainstem and posterior fossa. Electroencephalogram was without evidence of seizure activity. There is no family history of genetic disorders, brain malformation, or learning/cognitive disability. Carl was not able to sit independently until 2 years of age and did not walk until 5 years. Now, he can walk short distances by himself but is often unsteady on his feet. He uses a wheelchair but does not propel himself despite a physical therapy assessment indicating that he has adequate strength to do so. Carl spoke his first word at 5 years, and his parents report that he currently uses...
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: Challenging Case Source Type: research

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Conclusions Surgical experience varied among FMPRS surgical fellows. Case volume was somewhat but not completely associated with self-perceived ability to practice a procedure independently.
Source: Female Pelvic Medicine and Reconstructive Surgery - Category: OBGYN Tags: Original Articles Source Type: research
This study aimed to investigate how a unilateral high-grade tear caused overdistension of LAM and whether tear positions affect the degree of distension. Methods A total of 209 women were screened by translabial ultrasonography. Then, 18 nulliparous women with an intact LAM and 26 postpartum women with unilateral levator ani defects were recruited. The anteroposterior diameter (AP), coronal diameter (LR), and hiatal area (HA) of the minimum levator hiatus were recorded and compared for assessing the distensibility. All 44 subjects underwent magnetic resonance imaging for the diagnosis of levator ani defect and detection...
Source: Female Pelvic Medicine and Reconstructive Surgery - Category: OBGYN Tags: Original Articles Source Type: research
Publication date: Available online 30 May 2020Source: Annals of Medicine and SurgeryAuthor(s): Ali İhsan Anadolulu, Gonca Gerçel, Osman Hakan Kocaman
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
CONCLUSION: The future of organ bioengineering relies on furthering understanding of organogenesis, in vivo regeneration, regenerative immunology and long-term monitoring of implanted bioengineered organs. PMID: 32463143 [PubMed - in process]
Source: The British Journal of Surgery - Category: Surgery Authors: Tags: Br J Surg Source Type: research
Abstract Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults with known risk factors of prothrombotic conditions, pregnancy, infection, malignancy, and drugs. Dutasteride is a 5α-reductase inhibitor that is used for benign prostate hypertrophy and androgenetic alopecia. To date, CVT caused by dutasteride use has not been reported. A 25-year-old male presented with headache and diplopia. He had taken 0.5 mg of dutasteride every other day for 9 months to treat alopecia. A headache developed 7 months after he started taking medication, and horizontal diplopia occurre...
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research
We report three cases of focal anterior interosseous fascicular involvement in the median nerve trunk presenting as AIN palsy. Our report emphasizes the unique ultrasonographic and magnetic resonance imaging (MRI) features of swelling, hourglass-like constriction and torsion, and entwinement of the nerve fascicle of the dorsal region of the median nerve, which were confirmed surgically. On MRI, all patients showed denervation changes in the AIN territory, as well as in the median nerve territory, without compressing structures. PMID: 32469179 [PubMed - in process]
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research
CONCLUSION: HI promotes the establishment of a substantial number of new neurons in non-neurogenic regions, suggesting intrinsic repair mechanisms of the brain, by controlling the behavior of endogenous NSPCs. The activation of NeuroD1 expression may improve the therapeutic potential of endogenous NSPCs by increasing their neuronal differentiation in HI. PMID: 32469173 [PubMed - in process]
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research
The objective of the present study was to determine the structure of the movement pattern performed during a wheelchair fencing lunge that is executed in response to visual and sensory stimuli. In addition, a comparison was made between fencers in the categories A and B of disability. In addition, the analysis involved the correlation between the duration of the sensorimotor response and the value of the bioelectric signal recorded in selected muscles. Seven Paralympic team athletes specializing in wheelchair fencing (3 in category A and 4 in category B) participated in the research. The fencers perform at international le...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Abstract ATPase family AAA domain-containing protein 2 (ATAD2), a chromatin regulator and an oncogenic transcription cofactor, is frequently overexpressed in many cancers, particularly in hepatocellular carcinoma (HCC). By integrating open-access online mRNA datasets and our institutional tissue data on HCC, the clinical role and functions of ATAD2 were analyzed by bioinformatic algorithms. We systematically examined ATAD2 expression in HCC based on a large sample population, integrating data from our institution and the GEO, Oncomine, and TCGA datasets. Aberrant ATAD2 expression related to pathways was identified...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Abstract To evaluate the clinical significance of spinal decompression and fusion for lumbar spinal stenosis in old patients under Roussouly classification, 160 old patients (>60 year old) with lumbar spinal stenosis underwent spinal decompression, and fusion were retrospectively studied. According to Roussouly classification, patients were divided into 4 groups, in which Roussouly types I, II, and IV were the nonstandard group and Roussouly type III was the standard group. Visual analog scale (waist, leg) and Oswestry disability index (ODI) scores were recorded before operation and at the final follow-up. All ...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
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