Neonate with 10q Interstitial Deletion within the Long Arm of Chromosome 10- A Case Report and Literature Review
Introduction: Partial deletion of distal chromosome 10q was first reported in 1978 by Lewandowski1. Interstitial deletions within bands 10q25e10q26.3 are rare. Seven such cases were reported so far2. Patient Information: A term AGA male newborn was delivered at our perinatal center with antenatal diagnosis of unbalanced translocation of chromosomes 10 and 12, and fetal cleft lip and cleft palate. Blood was sent for chromosome analysis using GTG banding method. Baby had facial dysmorphism, left cleft lip, bilateral cleft of soft and hard palate, intact nasal septum, normal ears and micrognathus. Abdominal ultrasound showed absence of right testis in inguinal canal and abdomen (anorchia). Hospital course was unremarkable except for feeding problems requiring feeding team, plastic surgery planned at 2- 3 months of age, and taping of the cleft lip. He went home on day 7. Conclusion: Here, we reported an extremely rare case of a male newborn with an interstitial deletion within the long arm of chromosome 10 between bands 10q25.1 and 10q26.1, with dysmorphic features, along with a few unreported associations (atypical Pierre-Robin sequence and bilateral dorsal horn ventriculomegaly). We added a comprehensive review of literature on chromosome 10q deletions to the case report. We also listed clinical implications of 71 RefSeq and OMIM genes noted in that ~13.3Mb 10q deletion in the Appendix. Earlier detection of both common and rare chromosomal- genetic abnormalities might prepare the family and health care team to plan optimal care to the mother, and baby.
BACKGROUND: There are five major types of inflammatory myopathies (IM), including dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, antisynthetase syndromes, and inclusion body myositis. Grouped together, the incidence of IM is >4 cases/100,000 with a prevalence of 14-32/100,000. Type-specific IM diagnoses are based on the pattern of muscle weakness and the results of electromyographs, MRIs, muscle biopsies, and measurements of myositis-specific autoantibodies1. We report the case of an elderly man with an inflammatory myopathy whose presenting complaint was dysphagia. OBJECTIVE: To review the clinical and laboratory manifestations of inflammatory myopathy-associated dysphagia. CASE REPORT: The patient is an 81-year-old retired Navy aviator who presented with a chief complaint of difficulty in swallowing both solids and liquids of several months duration. The dysphagia was associated with bouts of coughing, the expectoration of white foamy sputum, increased production of saliva, a weight loss of 5 kg, generalized myalgias, and worsening fatigue and weakness. The patient had a past medical history of essential hypertension, hyperlipidemia, autoimmune thyroiditis, V617F JAK2 + essential thrombocytosis, white matter microangiopathy, and a small lacunar infarction of the right caudate nucleus. There was no family history of autoimmune disease. On neurological examination, testing of cranial nerves II-XII and sensation to light touch, pin, temperature, and vibration was normal. The shoulder and upper arm strength was diminished bilaterally without evident muscle tenderness, atrophy or fasciculations. The patient could not rise from the supine position without assistance nor keep his arms elevated above his head without fatiguing. The strength in his lower extremities was normal. Deep tendon reflexes were normal and plantar responses were flexor. He had a single Gottron’s nodule and a faint erythematous rash involving his scalp, back and forearms. His Myositis Disease Activity Assessment (MDAAT) is shown in Table 1. Table 1. Myositis Disease Activity Assessment Tool (MDAAT) Findings on laboratory…
Percutaneous Nephrolithotomy in the supine flank free modified position for the removal of a 3 year Double-J ureteral stent in a horseshoe kidney
Horseshoe kidney is one of the most common congenital renal abnormalities with increased incidence of stone formation. We present a case of an HIV seropositive patient with a both-ends encrustated 3 year forgotten DJ stent and a staghorn stone in the left moiety of a horseshoe kidney. He was treated with percutaneous nephrolithotomy in the supine flank free modified position and simultaneous cystolitholapaxy. Supine percutaneous nephrolithotomy is safe and feasible in horseshoe kidney and facilitates simultaneous thansurethral access for cystolitholapaxy.
Objective: To present a case of thyroid-related psychosis and review the literature to assess evidence regarding the use of antipsychotic medications in patients who develop this condition. Data Sources: The OVID database was utilized to search for the terms “myxedema madness” and the combination of the terms “psychosis” and “thyroid.” The database was searched from 1946 until July 2018 and was limited to English language articles. Study Selection: A total of 25 articles were included in this study. These included 27 distinct case reports. Data Extraction: The abstracts of identified articles were reviewed. If an abstract was unavailable or inconclusive, the full article was reviewed. If there was no case report, or if the case was not clearly related to hypothyroidism, it was excluded. Authors assessed and identified cases included. Studies were excluded if recovery time was unreported; if cases included patients with pre-existing, chronic mental illness or intellectual disability, or if thyroid replacement medication was not initially administered. Results: Data suggested that there may be no benefit to treating thyroid-related psychosis with scheduled dosing of antipsychotics in addition to thyroid replacement. The review also suggested that male patients with thyroid-related psychosis seemed to respond more rapidly to thyroid replacement than female patients. Conclusions: Scheduled dose antipsychotic therapy was not observed to hasten recovery. Males with thyroid-related psychosis were observed to respond more quickly to thyroid replacement than females among the identified cases identified. Consideration should be given to initial trials of thyroid replacement alone in cases of thyroid-related psychosis.
Levothyroxine malabsorption induced by gastroparesis in type one diabetic patient: effect of intravenous levothyroxine therapy case report
19 year old female known case of primary hypothyroidism on levothyroxine replacement, type one diabetes on insulin pump with good glycemic control and stable thyroid function, developed diabetic gastroparesis with worsening response to oral levothyroxine therapy. Her symptoms of hypothyroidism and her thyroid function improved dramatically by intravenous levothyroxine three times weekly for 4 weeks then she restarted on her usual dose of oral levothyroxine. Intravenous levothyroxine three times weekly for 4 weeks followed by oral levothyroxine therapy maintained her euthyroid, improved hypothyroidism and gastroparesis symptoms till the date of editing of this report (more than 15 months.).
Foreign body (FB) aspiration is an uncommon but potentially life-threatening event, while the majority of accidental aspiration events occur in children, adults represent up to 25% of cases. When the diagnosis is not established immediately, retained FBs may lead to recurrent pneumonias, bronchiectasis, recurrent hemoptysis, pneumothorax, lung abscesses, pneumo-mediastinum, or other complications. Extraction of aspirated FBs should be undertaken as soon as possible to alleviate acute symptoms and prevent long term complications. FB aspiration is slightly more common in males. The vast majority of adult patients with FB aspiration have obvious risk factors for aspiration including neurological deficits with swallowing difficulties or altered mental status, neuromuscular disease, intoxication, or have an iatrogenic cause. Still, 10% of adult patients with FB aspiration have no known risk factors. Our case is 35 y old male patient who was brought to Accident and Emergency department after being found unresponsive in the street, on arrival to hospital his GCS was 9/15 with pin points pupils , spontaneous breathing and hemodynamic stable . CT brain was unremarkable Patient failed to respond to repeated doses of naloxone and his GCS dropped with episode of apnea so was intubated and mechanically ventilated. Follow up chest x-ray show opacification of the right lung, and ABG reveled hypoxia with respiratory acidosis in spite high ventilator settings, So CT chest was the best option which reveled bronchial obstruction mostly due to foreign body. Urgent bronchoscopy was done and unexpectedly obstruction was due to chewing gum pieces, aspiration of four large pieces of chewing gum, following that patient remained in the ICU for 2 days where chest x-ray show significant improvement and he was weaned and extubated successfully.
Candida prosthetic valve endocarditis (CPVE) is most commonly seen in persons who inject drugs intravenously or have indwelling catheters, pacemakers, or prosthetic joints that can serve as a nidus for candida suprainfection and seed the valve. Current treatment guidelines for CPVE include valve replacement and long-term antifungal therapy with intravenously administered Amphotericin B and parenteral or oral therapy with 5-fluorocytosine. Despite treatment, CPVE is characterized by a high recurrence rate (up to 36%) and a 5-year survival of less than 50%. I review my past experience in treating recalcitrant CPVE with transfer factor (TF) immunotherapy and conclude that TF can be a valuable adjuvant in the treatment of CPVE that does not respond to conventional interventions.
PURPOSE: To report case of isolated orbital cysticercosis METHODS: Patients with drooping of eyelid were referred to our hospital. Patients were evaluated and investigated to find the cause of ptosis. RESULTS: Two patients with acute unilateral ptosis were referred to our hospital. Patients were investigated, blood test, stool tests and MRI were done to rule out the causes. In both the patients ptosis was due to involvement of LPS muscle by cysticercus larva. All the patients gave history of excessive consumption of cabbage and pork. The mainstay of treatment included oral albendazole (15 mg/kg/day) and oral prednisolone (1mg/kg/day) for 4 weeks. After 4 weeks, oral albendazole was stopped and oral prednisolone was slowly tapered over the next one month. The effect of above treatment was seen after few days with regression of swelling and improvement of signs and symptoms. CONCLUSION: Orbital cysticercus stands as one of the major causes of ptosis in the lower socioeconomic status people who are consuming mainly unhygienic leafy vegetables such as cabbage, burgers and undercooked pork. Therefore, these patients should be vigorously evaluated on scans (MRI and CT) so that early diagnosis can be made and treatment can be given to prevent the permanent visual loss or dissemination to brain.
The post caesarean fistula and sinus can take place due to tuberculosis , Crohn’s disease , deep pelvic infections or non absorbable sutures and even gauzes. A thirty year old woman ( P1 ,L1 ) who presented with multiple discharging sinuses at left lower abdomen since five months . She underwent lower segment caesarean section 10 months ago. On local examination , there were three linear scars two cm below the previous horizontal scar . The Ultrasound of local site revealed irregular loculated collections of size 3 × 2 cm in subcutaneous plane. We excised the sinus tracts ,but after two month came with reccurence . We did re- exploration and the sinus tract of size 9 cm was excised. Sinuses reccur even without retained foreign body or chronic disease. The management does not differ with the size of sinus.
Objective: To present a case of osseous metaplasia in thyroid nodule. Introduction: Long standing thyroid nodules undergo changes. Sometimes they degenerate, may lead to hemorrhage or fibrosis and sometimes ectopic bone formation. Case report: 41 years old Yemeni married lady, presented to our surgical clinic with left thyroid nodule for 3 years duration. She had right thyroid lobectomy 6 years ago. She presented with left neck swelling and was taken to OR for thyroidectomy. histopathology came as extensive fibrosis and osseous metaplasia with small remnant of thyroid tissue. Discussion; Most thyroid stay longer with no complications but some undergo calcification or hemorrhage, fibrosis and sometimes osseous metaplasia. It may occur in benign or malignant thyroid swellings.