bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare case report: Werner syndrome
Authors: Uysal Serhat , Demir Ahmet Numan , Sulu Cem , Kara Zehra , Muradov Ilkin , Kadıoğlu Pınar 
Published: January 2023

Abstract

Introduction
Werner syndrome (WS), also known as adult progeria, is a rare autosomal recessive syndrome caused by pathogenic loss of function of the WRN gene on chromosome 8p12. WS is characterized by signs of premature aging in young adults, including short stature, graying of hair, bilateral cataracts, and scleroderma-like skin changes. A thin, high-pitched voice is characteristic of patients. In addition, diabetes mellitus, cardiovascular disease and osteoporosis can also be seen at an increased rate. Patients have an increased thyroid neoplasms, malignant melanoma and meningioma. There is no specific or effective treatment for this rare syndrome. In this case, we aimed to present our patient with this rare syndrome.

Clinical case
A 28-year-old male patient was admitted for diabetes regulation and foot ulcers. In the patient's history, it was learned that he did not gain weight and did not gain sufficient height since the age of 14. He had been receiving insulin therapy for uncontrolled diabetes for about 10 years. He had cataract surgery at the age of 18. In our evaluation, there were scleroderma-like skin changes on the distal parts of both lower extremities. The patient's hair turned gray. His voice was high-pitched. Two of his siblings looked like him. One sibling who looked like him died at the age of 34. In the laboratory tests; FPG:306 mg/dL and HbA1C:11. The patient had hypergonadotropic hypogonadism. Rheumatological disease examination was normal. No pathological features were observed in lower extremity doppler examinations. Werner syndrome was considered in the patient who did not have sufficient height growth during adolescence, graying of the hair, a history of cataracts, scleroderma-like skin changes, and an elderly appearance. Malignancy scans of the patient were found to be normal. Genetic counseling was given to the patient and his family. The patient was taken to outpatient follow-up.

Conclusion
Werner syndrome is a rare disease. It is important to recognize patients in the early period, to prevent disease-related complications, especially in terms of the risk of malignancy development.
A rare case of ectopic Cushing syndrome presenting with weight loss
Authors: Şah Ünal Fatma Tuğçe , Canpolat Asena Gökçay , Kıvrak Hale , Çorapçıoğlu Demet 
Published: January 2023

Abstract

Introduction
Cushing's Syndrome (CS) due to ectopic ACTH release, ectopic ACTH syndrome (EAS) is a rare cause of ACTH-dependent CS. Although many malignancies are associated with EAS, the most common of these is neuroendocrine tumors of the lung. EAS-induced hypercortisolism has a rapid onset and has serious life-threatening clinical consequences. The recommended first-line treatment of EAS is the surgical removal of the ectopic ACTH-secreting tumor (EAT). Despite improved imaging techniques, 10–30% of EATs cannot be located by first-line imaging methods and often require secondary evaluation or functional imaging techniques.

Clinical Case
A 26-year-old male patient with no known comorbidities, refers with complaints of weight loss, proximal muscle weakness, fatigue, dizziness, decreased voluntary attention and erectile dysfunction for 2 months. In the initial assessment, his blood pressure was 170/100 mmHg, pulse rate 85 bpm, body mass index was 24,8 kg/m2, ın physical examination nothing remarkable except dark coloured striae larger than 1 cm in the abdomen. There was no history of drug or herbal substance use. In the laboratory evaluation of the patient, hypokalemia and high fasting blood sugar were detected. The plasma ACTH and cortisol levels were elevated. 24-hour urinary free cortisol level was high. The diurnal rhythm of the cortisol was disturbed. Thereupon, no suppression was observed in blood and urine cortisol levels in the suppression test of 1 mg, 2 mg and 8 mg dexamethasone, respectively (Table 1). In the high-resonance CT imaging of the patient with suspected ectopic ACTH release, no tumor was detected in the first examination. CT imaging of the abdomen and pelvis revealed hyperplasia in the bilateral adrenal glands and an irregularly shaped nodule of approximately 7.5 mm in diameter, adjacent to the right lung lower lobe bronchus in the cross-sectional area. Gallium 68 DOTATATE PET CT was performed. In the nodular area at the base of the right lung, an increased activity was detected with a SUVMAX of 3.1. The patient was evaluated on the multidisciplinary endocrinology board and it was decided to perform a right lung lower lobectomy. The pathology result was reported as typical carcinoid tumor. A 100% ACTH positivity was detected in the immunohistochemically examination(Figure 1). Short-term low-dose steroid treatment was given to prevent adrenal insufficiency in the postoperative period. When the patient was evaluated with clinical and laboratory findings in the 3rd month, it was seen that cure was obtained in terms of CS.

Conclusion
As this case shows, EAS management is a rare condition that requires a multidisciplinary approach and can be difficult to diagnose and treat. Although weight loss appears paradoxical with CS, malignancy-related weight loss should also be considered. Early and accurate management is vital because of its course that can cause rapid clinical deterioration.
A rare reason for hospital admission with muscle weakness in the Covid-19 rra: CPT-2 deficiency
Authors: Akçay Seçkin , Talha Şişman Ibrahim , Yavuz Dilek 
Published: January 2023

Abstract

Introduction
Carnitine Palmitoyl Transferase-2 (CPT-2) is a mitochondrial enzyme involved in the pathway of long chain fatty acids. CPT-2 deficiency is a rare autosomal recessive disease. Except for neonatal and severe infantile hepatocardiomuscular forms, the myopathic form diagnosed at later ages often presents with attacks of muscle weakness and recurrent rhabdomyolysis attacks.

Clinical Case
A 27-year-old male patient who applied to the emergency department with complaints of pain all over the body, muscle weakness, nausea, vomiting, headache and decreased urine output in the last 2 days. He was consulted because of LDH: 456 U/L (0–248 U/L), CK: 5567 U/L (0–190 U/L), AST: 382 U/L (10–37), ALT: 89.8 U/L (10–40 U/L), creatinine: 1.23 mg/dL (0–1,2 mg/dL). He was interned with the prediagnosis of acute kidney injury secondary to rhabdomyolysis. It was learned that he had been fasting for 2 days and working at an intense physical pace. There were intensive care hospitalizations due to rhabdomyolysis at the age of 16 and 24 years and Reye's syndrome at the age of 15. It was not diagnosed at that time. His mother's cousin when he was 15 had sudden cardiac death. On physical examination, he was conscious and his general condition was poor. Blood pressure: 141/100mmHg, pulse: 76/min, and fever: 37.4. There were 4/5 muscle weakness in bilateral lower extremity proximal muscles 3/5, distal muscles 4/5, upper extremity proximal and distal muscles 4/5. Pre-diagnoses of very long chain fatty acid dehydration deficiency, CPT-2 deficiency, glutaric acidemia type-2 were considered, IV hydration and riboflavin 3×100mg, coenzyme-Q 2×100mg, carnitine 2×1gr mitochondrial cocktail were started. Tandem Mass and urine amino acid levels were requested from the patient who was in the attack period. During his hospitalization, he had increases of acute phase reactants and respiratory symptoms, Covid PCR+ was detected. Liver function tests increased under favipravir treatment. In the follow-up, the values of CK, creatinine and liver function tests ​​decreased with hydration. Homozygous c.338C&gt;T(p.Ser113Leu) mutation was detected in the CPT-2 gene.

Conclusion
CPT-2 deficiency should be kept in mind as a rare cause of increased muscle weakness after fasting, intense exercise, and all infections, especially Covid and other upper respiratory tract infections. Intense hydration and mitochondrial cocktail therapy should be added to the patient until the diagnosis is clarified.
Injection site reaction induced by liraglutide use in a female patient with obesity
Authors: Ayhan Ihsan , Topaloğlu Ömercan , Tekin Sakin , Bayraktaroğlu Taner 
Published: January 2023

Abstract

Introduction
Glucagon-like peptide-1 agonists (GLP-1 agonists) are one of the top treatment options in obesity and/or type 2 diabetes (T2D) according to the guidelines. It is well tolerated in patients with cardiovascular disease or chronic kidney disease. Allergic symptoms such as rash and pruritus have been reported in some publications in the use of liraglutide. We also reported an allergic reaction in the injection site associated with liraglutide administration.

Clinical Case
A 38-year-old female patient was referred with the complaints of obesity and postprandial tremor and dizziness. She gained weight about 8 kg (from 81 kg to 89 kg) in the last year. She had been taking escitalopram and trazodone with a diagnosis of anxiety. She had no history of previous surgery, smoking or alcohol use. Family history had type 1 diabetes in her sibling and prediabetes in her mother. On physical examination, height was 175 cm, body weight 92 kilogram, BMI was 30 kg/m2, blood pressure 126/88 mmHg, and heart rate 90/min. Systemic examinations were unremarkable. Abdominal sonography revealed grade 1 hepatic steatosis. Glucose level was measured as 101 mg/dL, Hb A1C 6.1%, TSH 4.55 µIU/mL, free T4 0.88 ng/dL, LDL 142 mg/dL, total cholesterol 215 mg/dL. Glucose measurements after oral glucose load were in normal range. Levothyroxine 25 µg and liraglutide were prescribed. One month later, the patient lost weight about 4 kilograms, but a macular rash 2 cm in diameter around the umbilicus was detected on examination, consistent with an allergic reaction (Figure 1). The patient was prescribed desloratadine, and advised to continue the injections and called for close follow-up. In the follow-up, patient lost a total of 12 kg weight in 4 months, and the rash regressed and did not recur.

Conclusion
In our case, a minor allergic reaction was observed with liraglutide use, and we continued liraglutide injection. We suggest close follow-up, continuation of liraglutide and addition of antihistaminics in the development of minor allergic reactions, considering the benefits and harms on a case-by-case basis.
An unconventional case of hypokalemia
Authors: Rao Mohan K , Swarup Mirudhubashini 
Published: January 2023

Abstract

Hypokalaemia is a common clinical problem. The underlying pathophysiology maybe one of them: insufficient potassium intake, excessive urinary or GI losses, and transcellular shifts.

Clinical Case
36/F presented with c/o B/L lower limb weakness for 3 days. She had no respiratory or swallowing difficulty and was able to move her neck muscles. No bowel or bladder incontinence. The patient was not on diuretics. A significant past history of similar complains 4 years & 2years back. Both times, she was evaluated to have hypokalemia and was treated with oral and IV K supplements. But, cause was not determined. She was diagnosed with T2DM 4 years back when she presented with irregular menses. Her other medical problems included PCOS (on OCPS), hypertension and dyslipidemia. There is a strong family h/o diabetes, & a family h/o breast CA. There were no symptoms of recent or chronic vomiting or diarrhea. She did not have any symptoms of thyrotoxicosis and was not taking beta-adrenergic agonists. She also denied treatment with corticosteroids.
O/E, the patient was obese. BMI-29.0kg/m2, HR, 90bpm, BP 150/100mmHg. Acanthosis nigricans was + around the neck. The rest of the examination was normal. Initial lab results - K level 2.0mmol/L. 24hr urinary K-21mEq/day. ABG-Ph 7.49, bicarbonate 26.2mmol/L. S. Mg 1.5mg/dl. Plasma renin 5.09ng/dl, plasma aldosterone 0.63µiu/ml, A/R ratio of 8.08. The possibility of Cushing's syndrome was considered. Further evaluation, baseline 8am cortisol 19.6µg/dl. 1mg screening overnight dexamethasone suppression test (DST) - 17.56µg/dl (&lt;1.8µg/dl). As it was positive, a confirmatory 0.5mg low dose DST was done. The 3rd day 8am S.Cortisol was 10.8 µg/dl (43.15% suppression). S.ACTH level-196pg/ml. A 24hr urinary cortisol-1284µg/dl. To differentiate between Pituitary and Ectopic Cushing's, overnight 8mg DST done. Baseline S.Cortisol repeated, 24µg/dl. After suppression, 15.9µg/dl (33.75%).
MRI pituitary performed, a well-defined heterogeneously enhancing mass lesion (measuring 15×13 x11 mm) was noted in the sella with mild suprasellar extension.
Cushing's disease - ACTH producing pituitary macroadenoma with mild suprasellar extension with no compressive features, presenting as hypokalemic paralysis
Treatment: Transsphenoidal resection of the tumor
S.cortisol repeated after 2 months-4.80µg/dl, after 3 months - 4.19µg/dl. T. Prednisolone 5mg was started, OD. S.cortisol repeated after 5 months - 10.65µg/dl. S. ACTH repeated after 1 month of surgery 101pg/ml. 4 months later, I/v/o persistent hyperpigmentation and poor glycemic control, MRI Pituitary repeated, some residual tissue noted. Patient was subjected to a session of radiotherapy and is currently doing well.

Conclusion
An unusual case of hypokalemia with no obvious features of Cushing's Disease, presented as hypokalemic paralysis and metabolic syndrome, with features of ACTH excess.
A rare presentation of acromegaly: Hypercalcemia
Authors: Kara Zehra , Sulu Cem , Demir Ahmet Numan , Kadıoğlu Pınar 
Published: January 2023

Abstract

Introduction
Acromegaly is a chronic disease in which adenoma composed of somatotroph cells causes excessive GH secretion. There is an increase in morbidity and mortality with the metabolic effects of GH secretion and the mass effect due to the compression of the adenoma. Hyperphosphatemia and hypercalciuria are seen at a rate of 30–60% in Acromegaly patients, which are presenting symptoms in our case.

Clinical Case
A 56-year-old woman presented with headache, weakness, sweating, and pain in the bones of the hands and feet, which had started within last one year. In the examinations, hypercalcemia and hyperphosphatemia were detected. The patient had a history of Hashimoto's thyroiditis, Addison's disease, Sjögren's syndrome and type 2 diabetes. She uses levothyroxine, hydroxychloroquine, hydrocortisone and metformin as treatment. In our evaluation, skin turgor was found to be decreased. Laboratory tests; Ca 12.1 (8.5–10.4) mg/dl, Albumin 3.9 gr/dl, P 5.6 (2.4–5.5) mg/dl PTH 1.8 (12–72) pg/ml, PTHrP&lt;0.5 pmol/L, 25 (OH) Vit D 34 (30–70) ng/ml, 1.25 dihydroxyvitamin D3 35 (30–70) ng/L. Multiple myeloma and other malignancies were excluded, sarcoidosis and other granulomatous causes were ruled out. The patient was euthyroid and mobile. The patient has no history of vitamin A and thiazide use. She was using hydrocortisone 30 mg/day because of Addison. Insulin-like growth factor (IGF-1) 394 ng/ml (93–245), GH 1.76 ng/ml was detected. 0, 1. and 2nd hour in oral glucose tolerance test (OGTT)-GH; hour GH/glucose values were 2.5/91, 1.07/166, 4.02ng/ml /211mg/dl, respectively. Sella MRI revealed a 5×3.5 mm adenoma in the left pituitary gland.
Figure-1 Pituitary adenoma in sella MRI (coronal and sagittal sections)
Figure 2 The course of PTH and Ca
The operation could not be performed early in the pandemic conditions, and the treatment was started with sandostatin 20 mg/28 days. Control IGF-1 was 212 ng/ml, serum Ca 9.4 mg/dl, PTH 23 ng/ml.

Conclusion
In case of hypercalcemia, it is recommended to consider also the diagnosis of Acromegaly and to check the IGF-1 level.
A rare cause of central diabetes insipidus with arthritis (Erdheim-Chester disease)
Authors: Khudhair Mahmood Shakir , Altae Gelal Abdali 
Published: January 2023

Abstract
Mr. Haider is a 26-year-old resident doctor who presented with intermittent fever relieved by NSAIDS fatigue, weakness, loss of libido, fever with no rigor, night sweat, bone, joint pain and knee swelling. He lost weight.
He was diagnosed with central chronic D.I for the last 3 years after several weeks history of polyurea and thirst without identifiable cause which follows elbow fracture with trivial trauma and was taking nasal desmopressin as required. His last symptoms were followed a Covid 19 attack. Physical examination reveals high fever 39 °C, pallor, thin built, no thyroid or lymph node enlargement. Chest examination is normal with no organomegaly on abdominal examination. Knee examination shows swollen red tender joint. Initial investigation shows ESR 110 mm/hr. CRP 10 mg/dl
Negative screening for tuberculosis, hepatitis, HIV, vasculitis and Brucellosis.
Normal kidney and liver function tests and electrolytes.Mild hyopochromic anemia. Normal free T4 and TSH, prolactin and cortisol.
Normal SHBG
Low morning testosterone twice 60 ng/dl. and 64 ng/dl. FSH and LH normal
Normal Dexa scan.
Thus till now there is feature of hypogonadism, D.I and arthritis.
Due to low testosterone MRI pituitary requested and reveals small size pituitary gland, absent post bight spot with mild thickening of the pituitary stalk with no mass lesion.
Suspicion of inflammatory or infiltrative lesion of pituitary was raised.
For proximal tibial lesion bone biopsy was done and revealed marked fibrosis with infiltration of bone marrow by foamy cells with multinucleated cells positive for CD 68 and negative for CD 1a by immunohistochemistry. Further evaluation by PET scan confirms the diagnosis and shows multifocal hypermetabolic symmetrical bone lesions most intense around elbows and knees consistent mostly with Erdheim Chester disease (ECD).
Patient was treated with testosterone injections with improved libido and consultation with oncologist was done to arrange the need for chemotherapy.
Molecular and genetic test is not available in Iraq and a sample was sent abroad.
To our knowledge this is the first reported case of ECD in Iraq.
Figure 1. PET image.
Exclusive Sertoli Cell Syndrome (ESCS) is a rare condition that has male infertility as its main consequence. It is one of the most serious forms of non-obstructive azoospermia, with a poor reproductive prognosis
Authors: Mohammed Adel Gassab 
Published: January 2023

Abstract
Exclusive Sertoli Cell Syndrome (ESCS) is a rare condition that has male infertility as its main consequence. It is one of the most serious forms of non-obstructive azoospermia, with a poor reproductive prognosis. In some cases, however, such as the type II of the syndrome, sperm can be recovered through testicular puncture and subsequent ICSI, with a 13% success rate. This article aims to report the case of an azoospermic 35-year-old patient, with no other significant changes in complementary exams. 35 years old man with history of primary infertility, he was married since 17 years with normal sexual activity and and average built. Hematologic examination and biochemistry lab data were within normal limits. LH and total testosterone values were also within normal range, together with slightly elevated FSH value (119.88mUI/ml. There was azoospermia in the first semen analysis.
Repeated semen analysis, 3 months later, revealed azoospermia. The karyotype of the patient is 46, XY with no Y chromosome micro deletions. Scrotal Color Doppler ultrasound and MRI examinations revealed that both testicles were in the left hemiscrotum. The lower testis had 53×26×43 mm dimensions and the posterosuperior located testis had 27×16×25 mm dimensions. Total abdominal ultrasonic examination revealed no developmental anomaly of urinary system. Family history of the patient revealed that mother and father were cousins no family history of infertility, the picture suggestive a case of sertoli only cell syndrome.
Complicated papillary thyroid cancer in young women: Case report
Authors: Altemimi Mahmood Thamer 
Published: January 2023

Abstract

Introduction
Despite papillary thyroid cancer (PTC) almost has a favorable prognosis, some patients for whom standard care is not sufficient due to the aggressive nature of their disease may exist. Here, we try to present a case report of young woman with a complicated PTC.

Clinical Case
A 32-year-old woman presented with a suspicious left lobe thyroid nodule, when a fine needle aspiration (FNA) cytology revealed classical PTC then underwent thyroidectomy with suppressive levothyroxine therapy was performed. During surveillance, a left supraclavicular lymph node (LN) was detected and an excisional biopsy was revealed metastatic PTC so that a total thyroidectomy with neck dissection was done, but unfortunately it was complicated by permanent tracheostomy. Two sessions of therapeutic radioactive iodine (RAI) were initiated at 150 mCi and then treated by suppressive levothyroxine therapy.
One year later on, another palpable cervical LN (area IV) with evidence of non-sizable thyroid tissue were discovered. A stimulated thyroglobulin level=150.8 (3.5–77) ng/ml, anti-thyroglobulin=18.41 (&lt;115) IU/mL and thyroid scintigraphy showed an intense radioiodine uptake in the thyroid bed (relatively large remnant thyroid tissue +/- residual disease), with no evidence of discrete RAI-avid cervical, mediastinal LN, or distant metastases. The patient is refusing further surgical intervention and Tyrosine kinase inhibitors may be a chance.
Early wise approach and prediction the highly prevalent factors for aggressive PTC can judge the management plan.

Conclusion
Meticulous preoperative evaluation of LN metastasis is required for PTC patients with certain criteria to assess the management plan.