Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation?

Introduction: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant (BMT) for thalassaemia major at childhood. We also reviewed some relevant literature in this report.Case Presentation: A 17-year-old girl was presented with primary amenorrhea and premature ovarian insufficiency after receiving chemotherapy and BMT from her brother due to thalassaemia major at childhood. She had poor secondary sex characteristics, assessed as stage I for the development of breasts and external genitalia based on the Tanner scale. Transabdominal ultrasound showed small uterus with visible endometrial lining and small ovaries. Laboratory data showed hypergonadotropic hypogonadism profile with low level of estrogen and high level of follicular-stimulating hormone (FSH). Patient's peripheral lymphocytes karyotype was 46, XY.Conclusions: This case was diagnosed as a chemotherapy induced premature ovarian insufficiency. Patient's peripheral lymphocytes karyotype (46, XY) after she received BMT from a male donor was a misleading finding, and the case could be easily misdiagnosed as Swyer syndrome. A correct diagnosis in such cases should depend not only on the recent clinical findings, but also on the detailed medical history. To prevent premature ovarian insufficiency in similar cases, fertility preservation should be offered to girls before they receive chemotherapy, total body irradiation and BMT.

Acute Vertigo After COVID-19 Vaccination: Case Series and Literature Review

Objective: The aim of this study was to present some cases of acute vertigo potentially related to the coronavirus disease 2019 (COVID-19) vaccine and review the available literature about cochleovestibular dysfunction after the COVID-19 vaccination.Methods: In the period from May to July 2021, we evaluated 33 patients (mean age 54.3 ± 14.1) with “acute vertigo” post COVID-19 vaccination. A detailed medical history was taken on comorbidities, types of vaccines received, and symptoms associated. All patients underwent otoneurological evaluation, such as head impulse test, nystagmus evaluation, test of skew (HINTS) examination. Head shaking test-induced nystagmus, hyperventilation-induced nystagmus, and parossistic positional nystagmus were studied to search for vestibular impairment.Results: Symptoms included 16 patients (48.5%) with objective vertigo, 14 patients (42.4%) with subjective vertigo, and 3 patients (9.1%) with dizziness. Of the associated ear, nose, and throat (ENT) symptoms, the most expressed was tinnitus (18.2%). Bedside examination showed absent nystagmus in 7 patients (21.2%), 9 patients (27.3%) had horizontal or rotatory nystagmus, 17 patients (51.5%) had a vertical or oblique nystagmus, negative HST, or “central HINTS.”Discussion and Conclusions: The 9 patients had an evoked nystagmus pathognomonic for benign paroxysmal positional vertigo; in the remaining 17 cases, peripheral vestibular dysfunction could be excluded and central disorder may be suggested. Due to the prevalence of nystagmus of non-peripheral origin, a central nervous system involvement could not be excluded. However, due to the small sample size, a definite cause–effect relationship between vaccination and vertigo cannot be inferred. In light of expected third dose, large-scale and well-designed studies are needed to better define possible adverse reactions of the COVID-19 vaccine.

Approach To The Pediatric Patient: Central Diabetes Insipidus

Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating congenital or acquired cerebral and pituitary stalk lesions. Pituitary stalk size at presentation could be normal, but it may change over time, depending on the underlying condition, while other brain areas or organs may become involved during follow up. Early diagnosis and treatment are crucial in order to avoid central nervous system damage, germ cell tumor dissemination, and to minimize complications of multiple pituitary hormone defects. We provide a practical update on the diagnosis and management of patients with CDI and highlight several pitfalls that may complicate the differential diagnosis of conditions presenting with polyuria and polydipsia. The need for a careful and close follow-up of patients with “apparently” idiopathic CDI is particularly emphasized, because the underlying condition may be recognized over time. The clinical scenario that we outline at the beginning of this article represents the basis for the discussion about how the etiological diagnosis of CDI can be overlooked, and demonstrates how a water intake and urine output improvement can be a sign of progressive damage of both hypothalamus and anterior pituitary gland with associated pituitary hormonal deficiencies.

Clinical characteristics of patients with acquired immunodeficiency syndrome having respiratory symptoms as the initial manifestations: A retrospective study

The aim of the study was to investigate clinical features of patients with AIDS having respiratory symptoms as initial manifestations and help in the early diagnosis. Eighty-eight patients admitted to the Shanghai Pulmonary Hospital were included in the study. General data, clinical manifestations, laboratory tests, chest computed tomography (CT) imaging features, treatments, and prognosis were analyzed. Peripheral leukopenia, lymphopenia, hypoxemia, and reduced percentage of CD4+ T lymphocytes were found in 25.6%, 43.6%, 27.5%, and 94.9% of the patients, respectively. Pneumocystis jirovecii pneumonia (PCP) was the most frequent cause of opportunistic pulmonary infection. Patients with PCP had more bilateral lung involvement and ground-glass shadow in CT manifestations. A follow-up of the 43 patients transferred to the Public Health Center showed improvement in 27 (62.8%), stabilization in 4 (9.3%), worsening in 1 (2.3%), and death in 11 (25.6%) patients. Detailed medical history recording, screening of human immunodeficiency virus antibody, and flow cytometry would improve the diagnostic efficiency of AIDS in patients with diffuse ground-glass shadow in chest CT. Early and empirical treatment could improve the prognosis.

Extensive Assessment of Underlying Etiological Factors in Primary Infertile Men Reduces the Proportion of Men With Idiopathic Infertility

ObjectiveUp to 40% of infertile men remain without a recognized cause (i.e., idiopathic infertility). We aimed to identify, categorize, and report the supposed causes of male infertility in a cohort of white-European men presenting for primary couple’s infertility, by using a thorough and extensive baseline diagnostic work-up.Material and MethodsCross-sectional study of 1,174 primary infertile men who underwent a thorough diagnostic work-up including: detailed medical history, physical examination, hormonal assessment, genetic testing, semen analyses; semen and urine cultures; testis color Duplex US. Men without any identified causal factor were considered as idiopathic. Six different etiological categories were established, and their prevalence was estimated. Logistic regression models estimated the risk of missing causal identification.ResultsA possible causal factor was identified in 928 (81%) men. Hypogonadism was the most frequent identified cause (37%), followed by varicocele (27%). Genetic abnormalities were found in 5% of patients. A causal factor was more easily identifiable for the more severe infertility cases, and azoospermic men were those less likely to be defined as idiopathic (OR and 95% CIs: 0.09; 0.04-0.20). Relative proportion of identified causes remained constant during the 10-year study period (p>0.43).ConclusionsDue to a more comprehensive and extensive diagnostic work-up, at least one underlying cause of male infertility factor in 4 out of 5 infertile men can be identified. Men with a less severe phenotype remain a clinical challenge in terms of establishing a possible etiologic factor. Further studies are needed to assess which subset of infertile men deserves a more extensive work-up.

Autoimmune Progressive Fibrosing Interstitial Lung Disease: Predictors of Fast Decline

A subset of interstitial lung diseases (ILDs) with autoimmune traits—including connective tissue disease-associated ILD (CTD-ILD) and interstitial pneumonia with autoimmune features (IPAF)—develops progressive fibrosing (PF)-ILD. The aim of our study was to evaluate the clinical characteristics and predictors of longitudinal lung function (LF) changes in autoimmune PF-ILD patients in a real-world setting. All ILD cases with confirmed or suspected autoimmunity discussed by a multidisciplinary team (MDT) between January 2017 and June 2019 (n = 511) were reviewed, including 63 CTD-ILD and 44 IPAF patients. Detailed medical history, LF test, diffusing capacity of the lung for carbon monoxide (DLCO), 6-min walk test (6MWT), blood gas analysis (BGA), and high-resolution computer tomography (HRCT) were performed. Longitudinal follow-up for functional parameters was at least 2 years. Women were overrepresented (70.1%), and the age of the IPAF group was significantly higher as compared to the CTD-ILD group (p < 0.001). Dyspnea, crackles, and weight loss were significantly more common in the IPAF group as compared to the CTD-ILD group (84.1% vs. 58.7%, p = 0.006; 72.7% vs. 49.2%, p = 0.017; 29.6% vs. 4.8%, p = 0.001). Forced vital capacity (FVC) yearly decline was more pronounced in IPAF (53.1 ± 0.3 vs. 16.7 ± 0.2 ml; p = 0.294), while the majority of patients (IPAF: 68% and CTD-ILD 82%) did not deteriorate. Factors influencing progression included malignancy as a comorbidity, anti-SS-A antibodies, and post-exercise pulse increase at 6MWT. Antifibrotic therapy was administered significantly more often in IPAF as compared to CTD-ILD patients (n = 13, 29.5% vs. n = 5, 7.9%; p = 0.007), and importantly, this treatment reduced lung function decline when compared to non-treated patients. Majority of patients improved or were stable regarding lung function, and autoimmune-associated PF-ILD was more common in patients having IPAF. Functional decline predictors were anti-SS-A antibodies and marked post-exercise pulse increase at 6MWT. Antifibrotic treatments reduced progression in progressive fibrosing CTD-ILD and IPAF, emphasizing the need for guidelines including optimal treatment start and combination therapies in this special patient group.

Sudden Onset of Vestibular Migraine Complicated with BPPV and Mal de Debarquement Syndrome – a Diagnostic Dilemma

Vestibular migraine is combination of migraine and vestibular symptoms. In clinical examination it can be replaced with benign paroxysmal positional vertigo (BPPV) cupulolithiasis, but also BPPV is common comorbidity in migraine patients. There is also high association between vestibular migraine and Mal de Debarquement syndrome. Patient came to hospital with vertigo that was diagnosed as left PC-BPPV canalolithiasis. After first Epley's maneuver symptoms didn't resolved. Week after, at second Epley's maneuver performed patient developed left PC-BPPV cupulolithiasis. Month after, at third Epley's maneuver BPPV resolved but patient developed Mal de Debarquement syndrome. Laboratory testing showed hyperhomocisteinemia and homozygous MTHFR C677T and PAI, with low vitamin D. After reviewing the vestibular symptoms in the first attack which was misdiagnosed as BPPV canalolithiasis, and history of migraine, patient was diagnosed with vestibular migraine. Patient well responded to migraine diet and supplementation with B complex. Vestibular disorders are similar to each other and they can overlap. More attention in taking detailed medical history should be given to patients with vertigo or dizziness.

The Challenges of Sump Syndrome: a Case Report and Literature Review

Sump syndrome is a rare complication of a side to side choledochoduodenostomy (CDD). After the introduction of endoscopic retrograde cholangiopancreatography (ERCP) in 1968 Kozarek (Gastroenterol Hepatol (N Y) 13(10):620-622, 2017), choledochoduodenostomy and its complications are seldom seen. The diagnosis of sump syndrome is further befogged by the lack of characteristic clinical or laboratory findings, the inability of the patient to provide medical records of their CDD, and the fact that sump syndrome only presents decades after a CDD. In this article, we will present a case of a 39-year-old female patient who presented as a case of ascending cholangitis with an initially unknown past surgical history. A detailed medical history was thoroughly taken, and her previous medical reports were presented after which an ERCP was done with extraction of debris was preformed. In a time where choledochoduodenostomy is rarely being chosen as a choice of treatment and its complications are infrequently encountered, this case serves as a reminder that even in the ERCP era, complications of choledochoduodenostomy should still be well understood.

Impact of comorbidities on risk of angioedema without urticaria in elderly patients

Background Angioedema without urticaria (AWU) is a disease found in the elderly population but is still poorly studied. The aim of this study was to investigate potential factors, especially comorbidities, that may affect the induction of angioedema without urticaria in patients over 60 years of age. Methods This was an observational, retrospective study of 242 patients with a diagnosis of AWU and 263 controls. The inclusion criteria were as follows: at least one episode of confirmed AWU based on the ICD-10 code (T78.3) that required treatment in the last 15 years (2004–2019); age above 60 years; detailed medical history of comorbidities; and details regarding the use of drugs at that time. Serum functional and quantitative C1 inhibitor assays were performed, and serum C4 was measured. Comorbidities were grouped into the following panels: autoimmune, cancer, cardiac, metabolic, respiratory and allergic, liver failure and renal failure. Individual diseases were checked according to ICD code and treatment. Results In 1 (0.4%) patient, hereditary angioedema was confirmed. Decreased levels of C1INH were observed in 4 (1.65%) patients, dysfunction of C1INH was observed in 5 (1.76%) patients, and low levels of C4 were observed in 9 (3.71%) patients in the study group. The multiple logistic regression model revealed that patients with hyperuricemia or Hashimoto’s disease had a significantly higher chance of angioedema (OR = 3.21, 95% CI 2.92–3.66, p = 0.002; OR = 1.78 95% CI 1.37–2.21, p = 0.034, respectively). Conclusion The obtained results may indicate a significant influence of hyperuricemia or Hashimoto’s disease on angioedema manifestations.

REACTIVATION OF TUBERCULOSIS AND COVID-19

Coronavirus disease 2019 (COVID-19) is a viral disease caused by a novel coronavirus that can lead to severe acute respiratory failure. Recent studies have shown that aggravating factors in the etiology of COVID-19 disease include genetic defects and autoantibodies against type 1 interferon. Mycobacterium tuberculosis is an immobile aerobic bacillus that causes tuberculosis disease. SARS-CoV-2 infection and immunosuppressive drugs may temporarily inhibit immunologic system, then may lead to active tuberculosis by reactivation or infection of M. tuberculosis. We aimed to show that there is a relationship between covid-19 infection and an increase in the number of tuberculosis patients. Eight patients diagnosed with tuberculosis in the Pediatric Pulmonology and Pediatric Infectious Diseases Clinics of Necmettin Erbakan University, Meram Medical Faculty between March 2020 and May 2021 were enrolled in this study. The presence of COVID-19 infection was confirmed by COVID-19 antibody test and patient’s detailed medical history. The patient with negative antibody test was also included in the study if other family members confirmed for COVID-19 infection by RT-PCR. We evaluated demographic data, laboratory findings, imaging tests and pathology results of all patients. The remarkable increase in the number of tuberculosis activation in the recent year suggests the role of COVID-19 infection. The pathologic structure of the virus may be responsible of the increase, although the mechanism is not fully understood. Further research should be done on this topic.