Journal of Clinical Case Reports

The temporal lobe epilepsy (TLE) is characterized by the neurodegeneration, abnormal reorganization of circuitry, and the loss of functional inhibition in hippocampus regions. Particularly, the declined neurogenesis in hippocampus has emerged as a significant hallmark of TLE. RbAp48, which is initially recognized as a retinoblastoma binding protein, is also identified as a positive regulator of human neurogenesis owing to its ability to regulate the expression of the pluripotency, differentiation, and cell cycle genes in human PSCs. The deficiency of RbAp48 critically contributes to the dentate gyrus (DG) dysfunction and is closely related to age-related memory deficits. Nevertheless, the roles of RbAp48 in the neurogenesis deterioration and memory loss of TLE patients remain to be determined. In view of the linkage between the deficiency of RbAp48 and the TLE-related memory loss, it is reasonable to hypothesize that the expression level of RbAp48 in the hippocampus of the TLE patients might be down regulated in accordance with the reduced neurogenesis. As the neurogenesis exhibits a close relationship with the hippocampal functions like learning and memory, the RbAp48 would possibly act as a candidate biology predictor for the cognition impairments of the TLE patients. This notion might cast insights into the etiology of hippocampusbased memory loss in TLE patients with the potentials of opening up new therapeutic avenues.

We present a case of Strongyloides stercoralis hyperinfection syndrome in the frame of a Good syndrome. The Good Syndrome is a rare cause of combined B- and T-cell immunodeficiency that occurs in association with a thymoma. Patients affected with Good syndrome have increased susceptibility to infections.

Hemoptysis after physical activity is a quite common presenting symptom. However, hemoptysis during/after sexual intercourse is a rare condition, and cardiac decompensation has been mostly implicated in the etiology This is because, exertion associated with sexual stimulation and coitus can cause transient hemoptysis secondary to a transient elevation of pulmonary capillary pressure with subsequent rupture of pulmonary capillaries and hemoptysis.

We present a 56-year-old Caucasian male, with a past medical history of hypertension, hyperlipidemia, obesity and sleep apnea who presented with h haemoptysis of four-months duration. Echocardiography revealed normal left ventricular systolic function, with Ejection Fraction EF of 55%. Grade I diastolic dysfunction, mild mitral regurgitation and aortic regurgitation.

Ischemic mitral regurgitation is a complication of coronary artery disease. It is a dynamic lesion and its severity may increase with different forms of exercise leading to flash pulmonary edema. This case highlights that silent coronary artery disease can present as post-coital hemoptysis in middle aged patients, the importance to rule out underlying cardiac pathologies through an extensive cardiac workup in patients presenting with post-coital haemoptysis.

We report a patient presenting with adverse effects of an herbal supplement, Chaparral, which has been marketed to treat colds, skin disorders, arthritis, bladder infections, and even cancer, among other conditions. It is not approved by the FDA and there has been no research to support its marketed benefits. Some of the reported adverse effects include liver and kidney failure. Our patient presented with uremia. She was ruled out for other causes of renal failure such as glomerular disease, viral causes, and obstruction. Bilateral kidney ultrasound showed atrophic kidneys suggestive of acute on chronic kidney failure. This was successfully treated with hemodialysis during her hospitalization and was discharged with need for long term dialysis and follow up for potential renal transplant. This case illustrates the severe adverse effects that can occur as a result of Chaparral use in a patient using this medicine and reinforces the importance of a thorough medication history.

A 58-year-old Japanese woman was admitted to the hospital with fever, diarrhea, melena and lower abdominal pain. Colonoscopy showed moderate left-sided Ulcerative Colitis (UC). Administration of 5-aminosalicylic acid (5- ASA) (3600 mg) was started, but skin eruptions and hepatic dysfunction occurred. The drug lymphocyte stimulation test (DLST) was positive for 5-ASA, so this medication was discontinued. Prednisolone (PSL, initially 10 mg/day) was started, and remission was achieved. However, relapse occurred 5 months later after the discontinuation of PSL, and hospitalization was required again. Remission was achieved again by PSL, and azathioprine (AZA) (initially 25 mg/day) was started as maintenance therapy. Hepatic dysfunction was detected at 1 month after starting AZA and was judged to represent drug-induced hepatitis. Following the discontinuation of AZA, PSL (2 mg/day) monotherapy was continued. At 11 months after discharge from hospital, the patient developed diarrhea, melena, and abdominal pain, requiring hospitalization for the third time. Colonoscopy showed extensive ulceration and spontaneous bleeding, indicating a relapse of severe UC. Administration of tacrolimus (TAC) led to remission and the patient was discharged from hospital. Because she experienced adverse effects with 5-ASA and AZA, TAC alone was continued as maintenance therapy for ≥ 2 years after the discontinuation of PSL. Relapse did not occur during this period and repeat colonoscopy showed mucosal healing. During the TAC maintenance therapy, slight deterioration of renal function was observed, but there were no other adverse events. In conclusion, we experienced a rare patient who responded to TAC maintenance monotherapy for severe UC.

Background: Colon cancer rarely invades the retroperitoneum and surrounding organs, such as the iliopsoas muscle, resulting in retroperitoneal abscesses. We present three cases of colon cancer with retroperitoneal abscesses (CRA, treated using different initial conservative therapies (ICTs, followed by laparoscopic surgery. We also reviewed 18 cases of CRA reported in Japanese literature from 2000 to 2016.

Case presentation: In Case 1 and 2, patients underwent abscess drainage as ICT. In Case 3, the patient diagnosed with cecum cancer underwent initial treatment with separation surgery, which isolated the right side of the colon from the left side and created a mucus fistula of the right-side colon to prevent stool from running through the lesion. In all cases, ICT combined with antibiotic therapy improved the general condition of the patients and reduced the volume of the abscess cavity, enabling a laparoscopic surgery to be performed. All cases underwent en bloc resection of the main tumor and invaded organ with adequate lymph node dissection. Rather than attempting complete resection of the entire abscess cavity, the debridement of the abscess cavity was performed. Although one patient complained of mild neuropathic pain of the left thigh after surgery, the postoperative clinical courses of the three patients were almost uneventful. The follow-up periods of Case 1, 2, and 3 were 24, 6, and 2 months respectively, and they have shown no signs of recurrence after surgery.

Conclusion: Following a review of 18 CRA cases, ICT for CRA didn’t make any significant differences in postoperative complication and length of hospital stay compared with surgery alone. However, based on our cases, ICT before surgery clearly provided benefit to the patients and made the use of laparoscopic surgery possible. ICT can be a useful strategy for the treatment of CRA.

Complete atrioventricular (AV) block is a well-known cause of diastolic AV regurgitation. In patients with complete AV block, the effective and synchronized ventricular systole may not occur at the end of diastole, leading to the incomplete closure of AV valve. And the reversal pressure gradient between ventricle and atrium due to the delay in ventricular systole results in diastolic AV regurgitation. We report a case of tricuspid and mitral regurgitation after new-onset complete AV block.

Patients with Congenital Adrenal Hyperplasia (CAH) need a life-long treatment with glucocorticoids (GC) which affects bone quality and bone density. We report the clinical cases of twin sisters diagnosed at birth with CAH (simple virilization form). They both received treatment with GC and were diagnosed with severe Hyperkyphosis; they underwent transpedicular vertebral instrumentation, Ponte osteotomies and posterior autograft spinal fusion. Post-surgery evolution was favourable. After 3 years, one of the patients suffered a spinal implant infection that needed debridement and drainage. Patients with long term treatment with GC have a higher risk for osteoporosis than the general population. While monitoring the patients we should take into consideration the bone`s status and preventive measures against osteoporosis. It is important to diagnose the deformities of the spine at a young age in order to be able to tray a conservative treatment because, for these patients, surgery comes with a higher risk of complications. It is necessary to have paediatric orthopaedic checkups for children with long term GC treatment.

Reverse triggering is defined as diaphragmatic muscle contraction triggered by mandatory breath of ventilator. Reverse triggering induced double cycling and large tidal volume (VT) in Pressure Control Ventilation (PCV).

An 81-year-old male was admitted to the ICU after tricuspid valve plasty. A close observation of graphic monitor showed a deflection of pressure waveform in the middle of mandatory breath. Electric activity of the diaphragm (EAdi) revealed diaphragmatic contraction following mandatory breath. When diaphragmatic contraction started at the end of mandatory breath it induced double-cycling. When it started at the middle of mandatory breath VT increased. As spontaneous breathing increased, reverse triggering disappeared. While the consequences of reverse triggering are under discussion, in our case it led double cycling and large VT, and it might be injurious. We should recognize it is more common than expected.

POEMS syndrome is a paraneoplastic phenomenon associated with polyneuropathy and paraproteinemia that arises out of the clonal expansion of plasma tumor cells. Its other distinguishing features include sclerotic bone lesions, increased vascular endothelial growth factor levels, Castleman disease alterations in lymph node biopsy and association with organomegaly, endocrinopathy, cutaneous lesions, papilledema, extravascular volume overload and thrombocytosis. Although established diagnostic criteria exist, the fact that the disease is rare and shares similar clinical manifestations with non-neoplastic conditions means that in most cases patients are diagnosed at latestage, when multiple complications have appeared and treatments for other conditions have already been given. Therefore, a high degree of suspicion combined with a multidisciplinary approach are requisites for attaining precise diagnosis and providing timely treatment. Due to the wide differential diagnosis that the syndrome´s clinical features encompass as well as its subsequent favourable responses to bone marrow transplant and diverse chemotherapy treatments, clinicians from diverse fields should include the POEMS syndrome within polyneuropathy differential diagnoses that require specific diagnostic tests. Herein, we present our case study in which we emphasize diagnosis and treatment of patients treated at our institution.

Background: Left Ventricular Noncompaction (LVNC) is a rare form of cardiomyopathy resulting from arrest in the normal endomyocardial compaction, characterized by the presence of prominent trabeculations and deep intertrabecular recesses. Clinical manifestations range from being asymptomatic, heart failure, arrhythmia and thromboembolism. Atrioventricular block (AV) block is a rare presentation.

Materials and Methods: In a patient presented with complete heart block and LVNC genomic DNA of thirteen genes associated with LVNC was analyzed by sequencing for exons, splicing and flanking regions. Novel variants were confirmed by independent Sanger sequencing. A novel variant in the Myosin Heavy Chain 7 gene (MHC7) was identified, alongside with two other variants in the (MHC7) and Vinculin (VCL).

Conclusion: The Genetic basis association between LVNC and heart block has been rarely reported, here we review the literature of similarly published cases.

Trichoscopy is a tool each time more used in the diagnosis of hair disorders. We describe two cases of white nodules on the hair shaft, their findings under microscopy and trichoscopy. The diagnosis of these hair shaft abnormalities is usually done by microscopy or electron microscopy of the affected hair; but trichoscopy was an easy, rapid, comfortable and useful method in the differential diagnosis of these conditions.

Background: Bladder extrophy is a rare congenital anomaly, it is now well reconized that an exstrophy of the bladder is associated with an increased risk of bladder cancer.

Case presentation: We report the case of 34-year-old male with squamous cell carcinoma of an unreconstructed exstrophic bladder. Because of the locally advanced disease, he received neoadjuvant chemotherapy with favorable response. Then, he underwent a total cystectomy with uretero-intestinal anastamosis.

Results: The patient progressed three months after the surgery. Chemotherapy was established and he received 2 cycles, however, he died 2 months later.

Conclusion: Squamous cell carcinoma associated with bladder extrophy remains relatively high. These tumors tend to be aggressive, follow-up is mandatory in these cases.

Morbidly adherent placenta usually presents with heavy bleeding and difficulty in placental removal in the third stage. Although association of morbidly adherent placenta with previous caesarean section or uterine surgery is well documented the exact pathogenesis of placenta accrete still remains unknown. We hereby report a case of spontaneous second trimester abortion followed by recurrent intermittent hemorrhage leading to hypovolemic shock. Following this hysterectomy was done, which on histopathology revealed placenta increta away from previous uterine scar site. Pathogenesis in this case for morbidly adherent placentation seems to be resembling that in a woman without any previous uterine surgery or scar, which is quite unusual. We report this case with a brief review of the literature.

Pancreatic cancer is one of the most lethal cancers, most patients (80%) were diagnosed as inoperable advanced pancreatic cancer at the first time, and over 60% patients received operation relapsed within 2 years. Chemotherapy remains the mainly treatment for inoperable advanced or recurrent pancreatic cancer. Even though, gemcitabine and oxaliplatin was approved as a first-line therapy for advanced pancreatic cancer, their effect is unsatisfactory, especially for cases with distant metastases. In this paper, we report a case of lung metastases of pancreatic cancer showed complete response (CR) after received gemcitabine and oxaliplatin chemotherapy. This patient has a 9.5 cm × 9 cm × 7.5 cm size mass in right lung, three years after whipple procedure for pancreatic cancer. Then, the lung metastases disappeared completely, after 6 cycles of GEMOX. The result of this case report hints us GEMOX was a better choice for metastatic pancreatic cancer than other combination chemotherapy, especially for patients with distant metastasis to lung.

T-cell large granular lymphocytic leukemia (T-cell LGLL) is a rare disorder characterized by the monoclonal expansion of CD3-positive cytotoxic T cells. Cell morphology and immunophenotyping are the main tools for diagnosis. Typical phenotypic findings include the expression of markers CD3+, CD5+dim, CD8+, CD16+, CD57+, and T-cell receptor (TCR) αβ (+). However, a few cases may present with the CD3+/CD4+ phenotype or the double expression of CD4 and CD8. Similarly, in 20% of cases, TCRγ/δ is positive. In this study, we aimed to describe a rare, unusual case of T-cell LGLL that exhibited expression of the B-cell antigen, CD20. Additionally, we performed a literature review to compare the clinical characteristics of our patient to those of other patients with CD20-positive T-cell LGLL and to seek new therapeutic possibilities.

Aneurysmal dilatation and progressive enlargement of one of the sinuses of Valsalva, most often occurs on the site of right coronary sinus and normally goes undetected during life until its rupture. Rarely, the aneurysm presents with evidence of obstruction of the right ventricular outflow tract, aortic insufficiency, conduction abnormalities, or coronary artery compression in the absence of rupture. The biggest size in the literature of aneurysm was reported as 8 cm. In this case report, we present successful surgical repair of 10 cm large sinus of Valsalva aneurysm with Bentall procedure.

A 77-year-old man with smoking history visited Thoracic Surgery department with a complaint of dry cough and dyspnea for months. Chest CT showed a mass over left upper lobe, mediastinal lymph node enlargement and bilateral lung nodules. CT-guide biopsy of the left upper lung mass revealed transitional cell carcinoma. Nevertheless, no primary origin was discovered after a thorough evaluation of genitourinary tract, including abdominal CT, FDGPET, cystoscopy and retrograde pyelography. We will discuss the possible reasons for the unknown primary origin of transitional cell carcinoma in a lung mass.

Recent studies have described the combination of both pulmonary emphysema and idiopathic interstitial lung disease (ILDs) by means of high-resolution computed axial tomography (HRCT). Definition of this syndrome was first named by Cottin et al. as combined pulmonary fibrosis and emphysema (CPFE). Functional and radiological findings have showed that these patients are suffering from severe breathlessness, but whose pulmonary functional tests revealed no signs of obstruction, normal static lung volumes, and depressed DLco, most with a history of smoking. The radiological and endoscopic studies especially show that these patients have both areas of upper-lobe predominant emphysema and lesions compatible with fibrosis in both lung bases. No prior research has reported any cases of such condition in person with no prior history of smoking as well as long-term high-dose of glucocorticoid therapy. In this case report, we discuss the presentation, diagnosis, and management of a 53-year-old non-smoker with increasing shortness of breath with a long-term high-dose of glucocorticoid therapy discovered to have an abnormal variant or presentation of CPFE. The cause of disease was attributed to a certain history of smoking in most studies, other potential risk factors have yet to be properly analyzed. This clinical report features a special case about the problem and solution surrounding this issue.

Introduction: Linear immunoglobulin A bullous dermatosis (LABD) is a rare, heterogeneous, autoimmune blistering skin disorder that can be associated with other autoimmune conditions. Case presentation: We describe the case of a 14-year-old Italian boy with previously diagnosed ulcerative colitis who presented a severe LABD well controlled after appropriate medical therapy and in total remission after a follow-up of one year.

Primary adenocarcinoma of the upper tract urothelial cell carcinomas (UTUCs) is rarely reported. We report a case of primary adenocarcinoma of the ureter with elevated carbohydrate antigen 19-9 (CA-19-9). A 44-year-old male was admitted to the hospital for severe right flank and hypogastrium pain for 7 days without visible or microscopic haematuria. The patient underwent radical nephroureterectomy followed by chemotherapy with gemcitabine/ carboplatin and inorelbine/Adriamycin (ADM)/5-fluoro-2,4 (1 h, 3 h) pyrimidinedione (5-FU) and radiotherapy, and the level of CA19-9 decreased to normal. Histopathology revealed adenocarcinoma. The patient died of tumor pelvic metastasis after 6 months. A review of the literature is also reported.

A retrospective review of radiology registry identified 3 cases of diagnosed giant multilocular cystadenoma of prostate. The first case illustrates a 59-year-old man with worsening voiding and storage symptoms of 2 months duration. The prostate was enlarged with the right lobe being bigger than the left node and his PSA was 9.3 ug/l. MRI showed large Multi cystic mass from the prostate and TRUS biopsy revealed adenocarcinoma prostate. Neoadjuvant LHRH agonist shrunk the mass before radiotherapy. He has no urinary symptoms and PSA consistently less than 0.1. Repeat MRI showed highly shrunken mass. In the second case, we present a 79-year-old patient presenting with rising PSA despite being on finasteride. MRI diagnosed large cystic and solid mass arising from the prostate and extending to the abdomen. Tran’s rectal ultrasound guided biopsy plus aspiration of the fluid from the multiloculated cyst revealed benign cystic adenoma with no evidence of any malignancy. Repeat MRI after 6 months of LHRH agonist showed multiloculated cyst adenoma of the prostate appears stable with no significant reduction in size and his PSA remains high. The third case is an 83-year-old presenting with LUTS, haematuria and rising PSA. He has a past medical history of low grade prostate cancer (diagnosed at TURP). MRI scan showed an enlarged echogenic prostate. TRUS biopsy of the mass identified complex proliferation of atypical glandular epithelium in a rather villous adenomatous pattern. Neoadjuvant LHRH agonist showed reduction in lower urinary symptoms.