Feeding intolerance scoring system in very preterm and very low birth weight infants using clinical and ultrasound findings.

Very preterm infants are at a high risk of developing feeding intolerance; however, there are no widely accepted definitions of feeding intolerance. This study aimed to develop a scoring system for feeding intolerance in very preterm infants by combining clinical symptoms and ultrasonography (US) findings. This prospective cohort study included very preterm and/or very low birth weight infants. We defined feeding intolerance as the inability to achieve full feeding (150 ml/kg/day) by 14 days of life. The clinical findings included vomiting, abdominal distention, and gastric fluid color. US findings included intestinal peristaltic frequency, gastric residual volume, peak systolic velocity, and the resistive index of the superior mesenteric artery. We conducted multivariate analyses to evaluate the potential predictors and developed a scoring system to predict feeding intolerance. A total of 156 infants fulfilled the eligibility criteria; however, 16 dropped out due to death. The proportion of patients with feeding intolerance was 60 (42.8%). Based on the predictive ability, predictors of feeding intolerance were determined using data from the US at 5-7 days of age. According to multivariate analysis, the final model consisted of 5 predictors: abdominal distention (score 1), hemorrhagic gastric fluid (score 2), intestinal peristaltic movement ≤18x/2 min (score 2), gastric fluid residue >25% (score 2), and resistive index >0.785 (score 2). A score equal to or above 5 indicated an increased risk of feeding intolerance with a positive predictive value of 84.4% (95% confidence interval:73.9-95.0) and a negative predictive value of 76.8% (95% confidence interval:68.4-85.3). The scoring system had good discrimination (area under the receiver operating characteristic curve:0.90) and calibration (p = 0.530) abilities. This study developed an objective, accurate, easy, and safe scoring system for predicting feeding intolerance based on clinical findings, 2D US, and color Doppler US.

Fibroepithelial Polyp of the Vagina With Torsion: A Difficult Diagnosis Based on Clinical and Morphological Findings of the Vaginal Lesion.

Vaginal fibroepithelial polyps are rare benign tumors of the mucosa of the anterior vaginal wall. In extremely rare cases, they may originate from the posterior vaginal wall or be complicated by torsion. Our case concerns a 63-year-old patient who presented to the gynecology outpatient clinic of the General Hospital of Trikala with minor vaginal bleeding. On vaginal examination, a large pedunculated painless hemorrhagic polypoid mass was noticed, originating from the posterior vaginal wall. A torsion of the pedunculated vaginal tumor was suspected, leading to its surgical excision with clear resection margins. Due to extensive tissue necrosis, accurate histological identification of the vaginal neoplasm was not possible. Histological examination excluded vaginal malignancy. Based predominantly on the clinical and morphological features of the vaginal lesion, a diagnosis of vaginal fibroepithelial polyp with torsion was made, acknowledging its limitations. The patient was discharged from the clinic the same afternoon following the surgery. Three months later, no recurrence of the lesion in the vaginal wall was noted. Following the case presentation, this paper provides a brief literature review of this rare entity, focusing on the diagnostic and therapeutic approaches.

Evaluation of the aesthetics and clinical findings in patients with missing maxillary lateral incisors treated with a 10-year interval.

INTRODUCTION: The most common treatment approaches for patients missing maxillary lateral incisors are implant replacement (IT) and orthodontic space closure (SC). Treatment techniques change and improve over time, and it is of interest to know if improvements differ between the methods. AIM: To compare the aesthetic outcome and other clinical findings in patients with one or two missing maxillary lateral incisors who were treated with a 10-year difference in time, with either orthodontic space closure or implant replacement. MATERIAL AND METHODS: A total of 88 patients were included in the study. Forty-four patients treated between 2011 and 2018 were included as the latter cohort (LC). The LC was compared to the early cohort (EC; n = 44), treated between 2001 and 2008. A total of 132 teeth was analysed: 62 teeth in the EC (28 teeth in IT cases and 34 teeth in SC cases) and 70 teeth in the LC (34 teeth in IT cases and 36 teeth in SC cases). Long-term clinical and aesthetic outcomes were evaluated. RESULTS: An improvement over time was found in crown length, BoP, papilla, the inclination of incisors, and overall appearance in IT cases and in crown colour and overbite in SC cases. A deterioration over time was found in crown length and BoP among the SC cases. CONCLUSION: Among the IT cases, an improvement in outcomes was noted over time. When comparing SC cases the colour of the crown and overbite had improved, while crown length and BoP had deteriorated over time.

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

BACKGROUND: Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH lack sufficient information, which highlights the importance of investigating and introducing more cases to further elucidate the clinical, radiological, and biochemical features of these disorders. The aim of this study is to provide an in-depth review of PCH and to identify disease genes and their inheritance patterns in 12 distinct Iranian families with clinically confirmed PCH. METHODS: Cases included in this study were selected based on their phenotypic and genetic information available at the Center for Comprehensive Genetic Services. Whole-exome sequencing (WES) was used to discover the underlying genetic etiology of participants' problems, and Sanger sequencing was utilized to confirm any suspected alterations. We also conducted a comprehensive molecular literature review to outline the genetic features of the various subtypes of PCH. RESULTS: This study classified and described the underlying etiology of PCH into three categories based on the genes involved. Twelve patients also were included, eleven of whom were from consanguineous parents. Ten different variations in 8 genes were found, all of which related to different types of PCH. Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1. Almost all patients presented with developmental delay, hypotonia, seizure, and microcephaly being common features. Strabismus and elevation in lactate levels in MR spectroscopy were novel phenotypes for the first time in PCH types 7 and 9. CONCLUSIONS: This study merges previously documented phenotypes and genotypes with unique novel ones. Due to the diversity in PCH, we provided guidance for detecting and diagnosing these heterogeneous groups of disorders. Moreover, since certain critical conditions, such as spinal muscular atrophy, can be a differential diagnosis, providing cases with novel variations and clinical findings could further expand the genetic and clinical spectrum of these diseases and help in better diagnosis. Therefore, six novel genetic variants and novel clinical and paraclinical findings have been reported for the first time. Further studies are needed to elucidate the underlying mechanisms and potential therapeutic targets for PCH.

Acute Development of Traumatic Intracranial Aneurysms After Civilian Gunshot Wounds to the Head.

In previous studies, the incidence of traumatic intracranial aneurysms (TICAs) after civilian gunshot wound to the head (cGSWH) was ∼3%. Given the use of delayed vessel imaging, we hypothesize that a significant fraction of TICAs is missed on initial non-contrasted scans. This study was designed to characterize acute TICAs using admission computed tomographic angiography (aCTA) in cGSWH. Over the period from 2017 to 2022, 341 patients were admitted to R. Adams Cowley Shock Trauma Center with cGSWH; 136 subjects had aCTA ∼3 (standard deviation [SD] 3.5) h post-injury. Demographics, clinical findings, imaging techniques, endovascular/surgical interventions, and outcomes were analyzed. Mean age was 34.7 (SD 13.1), male:female ratio was 120:16. Average admission Glasgow Coma Scale (GCS) score was 6 (SD 3.9). Entry site was frontal in 41, temporal in 55, parietal in 18, occipital in 6, suboccipital in 9, temporo-parietal in 1, and frontobasal-temporal in 6. Projectiles crossed multiple dural compartments in 76 (55%) patients. 35 TICAs were diagnosed in 28 subject: 24 were located along the middle cerebral artery (MCA), 6 in the anterior cerebral artery (ACA), 3 in the internal carotid artery (ICA), 1 in the posterior cerebral artery (PCA), and 1 in the middle meningeal artery (MMA). Eleven TICAs resolved spontaneously in nine patients. Eight aneurysms were treated by endovascular means, two via combined endovascular/open approaches. Forty-nine patients died, 10 of whom had 15 TICAs. Eighty patients developed intracerebral hematoma s (ICHs). Regression models showed that the presence of an ICH was the main predictor of TICA in cGSWH. Larger ICHs (average 22.3 cc vs. 9.4 cc in patients with and without aneurysms, respectively) in patients with cGSWH suggest hidden TICAs. Nearly 30% of patients had spontaneous resolution within 1 week. When CTA was performed acutely, TICAs were 10 times more frequent in cGSWH than in previous literature, and those patients were more likely to proceed to surgery. Almost one third of patients in this series died from the devastating effects of cGSWH.

Camel filariasis (Dipetalonema evansi) and its association with clinical balanoposthitis with reference to prominent changes in clinical findings, serum testosterone, semen analysis, and testicular histopathology.

BACKGROUND: Camel filariasis induced variable clinical syndromes characterized by fever, lethargy, localized dermal lesions, loss of condition, and testicular and scrotal swelling. The objective of the present work focused on clarifying the diagnostic importance of clinical findings, serum testosterone, and semen analysis as well as blood smear and testicular histopathology as a differential tool between only balanoposthitis without filariasis male camels group (OnlyBpgr) and balanoposthitis-filariasis infected male camels group (BpFlgr). The study also monitored the associations between the severity of ticks' infestations in investigated male camels and the occurrence of balanoposthitis only or balanoposthitis with filariasis. RESULTS AND CONCLUSIONS: The study reported significant correlation between serum testosterone, serum cortisol, and sperm vitality and abnormalities percentages. The study included male camels (n = 250) classified into three groups: healthy control group (Contgr; n = 30), OnlyBpgr (n = 210), and BpFlgr (n = 10). These male camels were clinically and laboratory examined, and skin scraping tests and testicular histopathology were conducted. The study confirmed the association of the changes in clinical findings, whole blood picture, serum testosterone, serum cortisol, and semen analysis, with OnlyBpgr and BpFlgr. These changes were more prominent in BpFlgr than in OnlyBpgr. Skin scraping test results revealed a higher severity of live ticks' infestation in BpFlgr than in OnlyBpgr because, unlike OnlyBpgr, all camels in BpFlgr (n = 10) were suffering from live ticks' infestation. It also concluded the higher efficacy of histopathology of testicular tissues in male camels as a diagnostic tool for adult filaria in balanoposthitis-affected male camels than blood smear because all cases of camel filariasis in the current work were negative for microfilaria on microscopic examination of diurnal blood smear as well as testicular histopathology revealed detection of adult filaria in all camel filariasis associated with balanoposthitis. Strong correlation relationships were demonstrated between serum testosterone, serum cortisol, and semen analysis results. Positive correlations were reported between serum testosterone levels and sperm vitality percentages. However, negative correlations were stated between serum testosterone and each of serum cortisol and sperm abnormalities either in Contgr, OnlyBpgr, or BpFlgr.

General Treatment and Ophthalmic Management of Peters' Anomaly.

Peters' anomaly (PA) is a manifestation of complex disorders in the development of the anterior segment of the eye. The most recognizable feature of the disease is a doughnut-shaped central corneal opacity and adhesions between the opacity and underlying iris. Glaucoma is observed in 30-70% of patients, with up to 50% of the patients showing concomitant vision-threatening disorders. Up to 60% of patients have systemic abnormalities or developmental delays. Being a rare malformation, PA is one of the most common congenital indications for corneal transplantation in infants. Penetrating keratoplasty is used as the primary method of treatment in cases with corneal opacification of a degree that forbids visual development in both eyes. The heterogeneity of co-occurring ophthalmic and systemic malformations in the spectrum of PA determines the wide range of success, defined by various endpoints: graft clarity or visual acuity. Although surgical advancement has made corneal grafting possible in younger children, it has a higher graft failure rate and worse visual prognosis than adult keratoplasty. Optical sector iridectomy, pupil dilation, or cornea rotation can alternatively be performed. Satisfying results of pediatric keratoprosthesis in particular cases of PA have been described. Postoperative treatment of PA aims to maintain a clear optical pathway and prevent amblyopia. This article therefore aims at reporting the ophthalmic treatment and need for multidisciplinary management of PA, including pharmacological and surgical treatment.

Echocardiographic characterization of cardiac chambers and vasculatures in buffaloes (Bubalus bubalis) during diastolic and systolic phases.

Background: Ultrasonography had diagnostic importance in the evaluation of different diseases in buffaloes, including cardiovascular diseases. Aim: The current work describes the normal echocardiographic findings in healthy buffaloes, along with establishing reference values for echocardiographic dimensions for both sides of the heart, i.e., left and right ones. Methods: About 30 healthy adult buffaloes that belonged to private farms in Assiut, Egypt, were included in this study. Each animal underwent a complete clinical evaluation as well as hematological analyses, lipid profile indices, liver functions, cardio-thoracic radiography, and echocardiography to confirm no diseased conditions were detected. The study was conducted on healthy buffaloes (n = 30) in Assiut Governorate, Egypt. Results: The obtained results reported healthy buffaloes with normal clinical findings as well as indices of blood pictures and serum biochemicals that were within the reference intervals. Radiography revealed a free reticulum and a well-defined diaphragm. The heart was seen as a typical radio-opaque organ. Ultrasonographically, using grayscale B-mode and M-mode, the heart was commonly imaged from the left fourth intercostal space. Different echocardiographic views were described, including the four chamber view, i.e., right atrium (RA), right ventricle (RV), tricuspid valve (TCV), left atrium, left ventricle, mitral valve, and interventricular septum (IVS), and the right ventricular outflow tract, i.e., RA, TCV, RV, pulmonary artery (PA), and pulmonary valve. Cross sections in each of the apex and base of the heart were described. Echocardiographic dimensions during cardiac diastole and systole, including diameters and wall thickness of each of the atria and ventricles, were demonstrated. Interventricular septal thickness wall thickness as well as diameters of the aorta and PA, were stated. Conclusion: The work tried to put reference values on the normal echocardiographic dimensions using 2-D B-mode gray scale ultrasonography in healthy adult buffaloes. These echocardiographic reference dimensions with normal echocardiographic imaging will be very helpful in enhancing the diagnostic efficacy of ultrasounds for recognizing abnormal findings related to cardiac disorders.

Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients.

Background Cystic fibrosis (CF) is a genetic disorder with diverse symptoms. Understanding its genetic basis and prevalence is crucial for effective management and treatment. Objective The study aimed to provide comprehensive insights into the frequency of CF gene mutations, clinical presentations, and complications among the Pakistani population. Methodology A cohort comprising 892 patients, ranging in age from 18 to more than 40 years, was selected on the basis of clinical and genetic criteria for the diagnosis of CF. Polymerase chain reaction (PCR) was used to look for 34 variants in the CFTR gene in blood samples. Statistical analysis, which included figuring out the number of mutations, the average age of diagnosis, and the genetic diversity of the samples, was performed to analyze the percentage of patients with specific mutations, offering insights into the genetic diversity. Results In our comprehensive analysis of 892 patient samples, 77.47% (n=691) displayed consanguinity, indicating a family history. The prevailing symptoms included chronic cough (88.67%; n=791), recurrent respiratory infections (76.68%; n=684), and fatigue (73.76%; n=658). The major complications comprised pulmonary infections (22%; n=197), cystic fibrosis-related diabetes (21%; n=187), and malabsorption (20%: n=178). A paired t-test revealed a mean difference of 5.750 with a standard deviation of 9.147, a 95% confidence interval from -0.061 to 11.561, a t-value of 2.178 with 11 degrees of freedom, and a two-tailed p-value of 0.052, suggesting a potential trend towards significance. Nevertheless, the asymptotic significance values of 1.000 and 0.998 for both groups indicate no significant difference. Furthermore, the study identified 12 cystic fibrosis gene mutations, with F508del and N1303K being the most prevalent. Conclusion This research revealed significant consanguinity, confirmed typical CF symptoms, and identified common complications and prevalent CFTR gene mutations (with F508del and N1303K being the most common), providing insights for genetic guidance and treatment in the Pakistani community.

Effect of different post-partum therapeutic protocols with intrauterine oxytetracycline, oxytocin and/or GnRH injection in post-kidding goats on oxytetracyclines residues in goat milk and postpartum ovarian resumption with referring to clinical and haematological pictures.

BACKGROUND: The post-parturient period in goat had marked changes in an animal's endocrine and metabolic status as well as by reduction in feed intake when the nutrient demand for impending lactogenesis was increasing. The current study aimed to monitor the residues of oxytetracycline in Baladi goat milk and their hazards on public health as well as the time required until complete disappearance of this medicament from milk through following up periods included 0, 12, 24, 36, 48, 60, 72, 84, 96 and 120 h in post-kidding goat following intrauterine application of oxytetracycline. The study also compared between the efficacy of oxytetracycline only, oxytetracycline with oxytocin, or oxytetracycline with GnRH, through monitoring the clinical findings and haematological pictures at days 0, 5 and 7 post-partum as well as studying the changes in numbers and size of follicles at days 15, 30 and 45 postpartum after different treatments strategies in different groups i.e. Control healthy goat (Contgr), Oxytetracycline treated goat (Oxytetgr), Oxytetracycline-oxytocin treated goat (Oxytet-Oxytogr) and Oxytetracycline-GnRH treated goat (Oxytet-GnRHgr). The study was carried out on clinically healthy Baladi goats (n = 40) that gave birth recently. They were divided into 4 equal groups (n = 10 goats for each); Contgr which received no medication after birth, Oxytetgr which administrated oxytetracycline tablets intrauterine at day of birth, Oxytet-Oxytogr which treated by oxytetracycline tablets intrauterine at day of birth followed by oxytocin injection at 3rd day after birth, and Oxytet-GnRHgr which treated by oxytetracycline tablets intrauterine at day of birth followed by GNRH injection at 3rd day after birth. RESULTS AND CONCLUSIONS: The study concluded the highest oxytetracyclines residues in goats' milk were reported after 36 h following intrauterine oxytetracycline application where complete disappearance of oxytetracyclines residues in goats' milk required 120 h elapsed after intrauterine oxytetracycline application in which the goats milk became safe for human consumption. The study also reported powerful influence of the applied variable therapeutic regimens on post-partum ovarian resumption through clear significant variations in numbers and sizes of follicles either between different goats' groups within the same day, or between days 15, 30 and 45 post-partum within each independent goat group.

Comparative pathogenicity of single and mixed drug-resistant Trypanosoma brucei brucei and Trypanosoma congolense infections in rats.

Drug-resistant trypanosomes are widespread in sub-Saharan Africa and in conjunction with the drug-sensitive phenotypes cause a serious endemic wasting disease in animals. We evaluated the pathogenicity of single and mixed drug-resistant Trypanosoma brucei brucei and T. congolense isolates in 35 female rats, randomly divided into seven groups (1-7) of five rats. Group 1 was the uninfected control. Groups 2 and 3 were infected with drug-sensitive T. brucei brucei and T. congolense, respectively, whereas groups 4 and 5 were infected with multidrug-resistant T. brucei brucei and T. congolense respectively. Group 6 were infected with drug-sensitive T. brucei brucei and T. congolense while group 7 were infected with multidrug-resistant T. brucei brucei and T. congolense. Parasitaemia kinetics, haematological parameters, body weight, clinical signs, survival time, gross and histopathological changes in the spleen were evaluated. Parasitaemia occurred between day 3-9 post-infection in all the infected groups. Rats in groups 4 and 7 had markedly prolonged (p < 0.05) pre-patent period, days to first peak parasitaemia, survival time, and lower (p < 0.05) parasitaemia level than groups 2 and 6 rats while these parameters were comparable for groups 3 and 5 rats. Anaemia was noted in the infected groups but the severity did not vary amongst the infected groups. Severe clinical signs and splenic lesions were noted in rats infected with drug-sensitive trypanosome species compared to the multidrug-resistant species. Therefore, we conclude that the trypanosome isolates were pathogenic. However, the drug-sensitive T. brucei brucei and mixed drug-sensitive trypanosome infections were more pathogenic than their multidrug-resistant counterparts.

Comparative study between efficacy of dexamethasone-prostaglandin-receptal combination and mechanical correction in uterine torsion cases in Egyptian buffalo-cows (Bubalus bubalis).

BACKGROUND: According to reports, the majority of domesticated species exhibited uterine torsion. It was occasionally noted as a cause of dystocia in buffaloes. The uterus might twist more frequently late in pregnancy because of certain animal traits. The current research monitored the clinical findings and laboratory assays associated with uterine torsion cases in pregnant buffalo-cows through comparing between normal labored buffalo-cows (Norm-Labgr; n = 20), mechanically corrected uterine torsed animals without medicament interference (UtrTorsgr; n = 160), and mechanically corrected uterine torsed animals with medicament interference (UtrTors-Medgr; n = 40) through focusing on placental characterization, calves body weight, milk constituents and milk somatic cell count (SCC) in normal labored buffaloes and uterine torsed ones. Through clinical and laboratory investigations of these buffaloes (N = 220) had been conducted 3 times; 7 h pre-calving and post calving (Post uterine correction) i.e. 48 and 96 h. Uterine torsion prevalence parameters, placental characterization, calves body weight, milk constituents and milk somatic cell counts were evaluated in normal labored buffaloes and uterine torsed ones. RESULTS AND CONCLUSIONS: The study concluded pre-calving remarkable variations in clinical findings, leukogram picture, calf birth weight and some placental characterization parameters between Norm-Labgr and each of UtrTorsgr and UtrTors-Medgr whereas these variations disappeared post-partum as a result to either only mechanical correction or mechanical correction plus medicaments interference. No pre-or post-calving significant changes between UtrTorsgr and UtrTors-Medgr except for the abnormal clinical findings were more representative in UtrTors-Medgr than those in UtrTorsgr particularly pre-calving. The applied pre-calving therapeutic regimen including dexamethasone-prostaglandin-receptal combination had a powerful potential efficacy that induced vaginal delivery of calves in UtrTors-Medgr as well as prepartum mechanical correction of torsed uterus approved higher efficacy in UtrTorsgr. The applied prepartum mechanical correction of torsed uterus and/or pre-calving therapeutic regimen as well as subsequent post-calving, post uterine correction applied medicament treatment accelerated rapid recovery of affected buffalo-cows through achieving rapid restoring of their physiological parameters. Buffalo-cow's milk composition, milk pH and milk SCC were not affected whereas no significant variations were reported between Norm-Labgr, UtrTorsgr and UtrTors-Medgr.

Shoulder Dysfunction in Parkinson Disease: Review of Clinical, Imaging Findings and Contributing Factors.

This study aimed to review shoulder clinical and imaging findings in Parkinson's disease (PD), focusing on the significance of timely diagnosis and management of shoulder dysfunction in PD for the prevention of shoulder-related complications. A bibliographical search was employed, using "Parkinson's" and "Shoulder Dysfunction" as keywords. A Magnetic Resonance Imaging, twenty clinical and three US studies were selected as relevant to shoulder dysfunction in PD. Shoulder pain, frozen shoulder and arm swing asymmetry are the most prevalent clinical findings that may antedate cardinal PD symptoms. Supraspinatus tendon thickening or tearing, adhesive capsulitis, acromioclavicular changes, bursa and joint effusion are common shoulder MRI or US-detected abnormalities in mild or severe PD stages. Fractures due to falls or osteoporosis are secondary shoulder pathologies. Higher ipsilateral Unified Parkinson's Disease Rated Scale (UPDRS) scores, rigidity, tremor, and bradykinesia are associated with frozen shoulder. Disease duration, rigidity, and falls are contributing factors for tendon tears, adhesive capsulitis, and fractures respectively. When common symptoms, such as pain and frozen shoulder are unaccounted for by orthopedic or other local primary pathology, they might indicate underlying early PD. Timely diagnosis and appropriate early management of PD may, in turn, help delay or prevent shoulder-related complications.

Behçet Syndrome.

Behçet's syndrome is a systemic vasculitis affecting arteries and veins of all sizes as well as recurrent oral, genital, and intestinal ulcers, skin lesions, predominantly posterior uveitis, and parenchymal brain lesions. These can be present in various combinations and sequences over time and diagnosis is made by recognizing the manifestations, as there are no diagnostic biomarkers or genetic tests. Treatment modalities include immunomodulatory agents, immunosuppressives and biologics, tailored according to prognostic factors, disease activity, severity, and patients' preferences.

Occult Lunotriquetral Ligament Injuries in Adolescent Golfers.

Publications on lunotriquetral interosseous ligament (LTIL) injuries among adolescent professional golfers are scarce. Inconclusive clinical and radiographic imaging in rendering a definitive treatment may inform the lack of documentation in literature. In this case study, we present three case series of highly competitive adolescent golfers who presented with persistent and intractable ulnar-sided wrist pain. While the physical examination was clinically suspicious for lunotriquetral (LT) ligament injury, plain radiographs and MRI imaging did not elucidate the cause. The diagnosis was confirmed solely via wrist arthroscopy. Although most ulna-sided wrist pain can be treated conservatively, without a proper diagnosis, a missed LTIL injury can be disastrous to an adolescent golfers' future. This case series aims to create awareness of the diagnosis and stress the advantages of utilising wrist arthroscopy. Level of Evidence: Level V (Therapeutic).

Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.

Prader-Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and behavioral problems, short stature with growth and other hormone deficiencies are identified during childhood. Those with the larger 15q11-q13 Type I deletion with the absence of four non-imprinted genes (NIPA1, NIPA2, CYFIP1, TUBGCP5) from the 15q11.2 BP1-BP2 region are more severely affected compared with those with PWS having a smaller Type II deletion. NIPA1 and NIPA2 genes encode magnesium and cation transporters, supporting brain and muscle development and function, glucose and insulin metabolism and neurobehavioral outcomes. Lower magnesium levels are reported in those with Type I deletions. The CYFIP1 gene encodes a protein associated with fragile X syndrome. The TUBGCP5 gene is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, more commonly seen in PWS with the Type I deletion. When the 15q11.2 BP1-BP2 region alone is deleted, neurodevelopment, motor, learning and behavioral problems including seizures, ADHD, obsessive-compulsive disorder (OCD) and autism may occur with other clinical findings recognized as Burnside-Butler syndrome. The genes in the 15q11.2 BP1-BP2 region may contribute to more clinical involvement and comorbidities in those with PWS and Type I deletions.

Citrobacter keratitis: predisposing factors and clinical characteristics.

PURPOSE: To report predisposing factors, clinical presentation, antibiotic sensitivity, and management of Citrobacter-caused infectious keratitis. METHODS: We retrospectively reviewed the medical records of culture-proven cases of Citrobacter keratitis in a tertiary referral center for 8 years (from January 2012 to September 2020). Demographic data of the patients, predisposing factors, and presenting signs were extracted. RESULTS: Eighteen cases of microbial keratitis due to Citrobacter spp. were identified. The median age of the patients was 66 years (range: 10-89, interquartile range : 59-81). Thirteen patients were male and 5 were female. Multiple predisposing factors were identified in all eyes, including ocular surface disease (n = 8), previous corneal surgery (n = 6), and history of ocular trauma (n = 6). Five patients were diabetic. Corrected distance visual acuity (CDVA) of patients was light perception (LP) in 8 patients, hand motion (HM) in 7, counting fingers (CF) at 1 m in 1, and CF at 2 m in 2 patients. Thirteen eyes exhibited hypopyon. An area of corneal thinning was observed in 7 eyes (38.9%). Endophthalmitis due to infectious keratitis developed in one patient. In vitro susceptibility testing confirmed high sensitivity to ceftazidime and aminoglycosides. Medical management consisted primarily of topical amikacin (20 mg/ml) combined with topical cefazoline (50 mg/ml) (72.2%). Surgical tectonic procedures were carried out in 7 eyes (38.9%). CONCLUSION: Citrobacter spp. is a rare cause of bacterial keratitis.Previous keratoplasty and ocular surface problems are important risk factors. The prognosis is not good and surgical tectonic intervention is required in many cases to resolve the corneal infection.

Peripheral facial nerve palsy in children: clinical manifestations, treatment and prognosis.

Background: Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is often idiopathic and sometimes it could be due to infectious, traumatic, neoplastic, and immune causes. This study aimed to report the clinical manifestation, evaluation, and prognosis in children with peripheral facial nerve palsy. Methods: 57 children under 18 years of age diagnosed with peripheral facial nerve palsy at Çukurova University, Balcali Hospital, between January 2018 and September 2021, were included in the study. Results: The mean age of the children at the time of diagnosis was 9.6 ± 7, 4 years. Thirty-two (56.1%) of the patients were female and 25 (43.9%) were male. A total of 57 patients were diagnosed with peripheral facial nerve palsy and categorized into many groups by etiology: idiopathic Bell's palsy in 27 (47.5%), infectious in 11 (19.2%), traumatic in 6 (10.5%), and others (due to congenital, immune, neoplastic, Melkersson-Rosenthal syndrome, drug toxicity, and iatrogenic causes) in 13 (22.8%). Forty-six of the children achieved full recovery under oral steroids within 1-7 months. Four patients with acute leukemia, myelodysplastic syndrome, Mobius syndrome and trauma did not recover and two patients (schwannoma, trauma) showed partial improvement. Five patients could not come to follow-up control. Conclusion: Peripheral facial nerve palsy is a rare condition in children with different causes. It could be idiopathic, congenital, or due to infectious, traumatic, neoplastic, and immune reasons. So, when a child presents with facial palsy, a complete clinical history and a detailed clinical examination are recommended. Giving attention to the red flag is very important. Peripheral facial nerve palsy in children is considered to have a good prognosis.

Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.

Coffin-Siris syndrome (CSS) (OMIM #135900) involves multiple congenital malformations, including hypotonia, short stature, sparse scalp hair, a coarse face, prominent eyebrows, a wide mouth, delayed bone age, and hypoplastic or absent fifth fingers/toes or nails, together with developmental delay. The cause of CSS is suggested to be related to alterations in the BRG- or HRBM-associated factor (BAF) pathway in humans. In this gene family, pathogenic variations in the AT-rich interactive domain-containing protein 1B (ARID1B) gene are revealed to be a significant element causing neurodevelopmental disability in patients with CSS. Herein, we describe the clinical features and gene variations in four Chinese patients with CSS. All the patients shared common features of short fifth fingers/toes or hypoplastic nails, coarse facial features, thick eyebrows, long cilia, a flat nasal bridge, a broad nose, a wide mouth, a high palate, and hypotonia. Besides, they had an intellectual disability, language, and motor developmental delay. Candidate genes were screened for variations using polymerase chain reaction (PCR) and sequencing. The variations were sequenced by next-generation sequencing and confirmed by first-generation sequencing. Exome sequencing suggested four de novo variations in the ARID1B gene in four unrelated patients. These included two frameshift variations (c.3581delC, c.6661_6662insG) and two nonsense variations (c.1936C>T, c.2248C>T). Of the four variations, three variations were novel. The results in our present study broaden the understanding of the disease and further interpret the molecular genetic mechanism of these rare variations in CSS.

Molecular investigations on outbreaks of ovine theileriosis among sheep and goats in Haryana, India.

During February 2020 to October 2020, four outbreaks of theileriosis in small ruminants were recorded with overall morbidity, mortality and case fatality rates of 27.95%, 17.46% and 62.5%, respectively. The disease was characterized by high fever (up to 106°F), superficial lymphadenopathy, anaemia, anorexia, lethargy, respiratory distress and death. The presence of pleomorphic intra-erythrocytic piroplasms of Theileria species in Giemsa's stained blood smears was a common finding in all the episodes. Significant haematological alterations including high total leucocyte count and low haemoglobin and packed cell volume were characteristic. Necropsy findings of the icteric liver, enlarged spleen, pulmonary oedema and abomasal ulcerations were observed in three flocks. Smear-positive blood samples from all the episodes were screened by PCR using 18S rRNA gene-specific primer sets for T. lestoquardi, T. luwenshuni, T. uilenbergi and T. ovis. T. lestoquardi which was detected in all four flocks, while there was co-infection of T. ovis in two flocks. Phylogenetic analysis revealed that T. ovis and T. lestoquardi identified in this study had 100% and ~ 99.86% homology, respectively, with the published sequences used for comparison. This is the first confirmed report of outbreaks of malignant ovine theileriosis in the Haryana state of India which caused high morbidity, mortality and case fatality among sheep and goats. Further studies on theilerioses in small ruminants are required to understand epidemiology better.