Project description:The predominant characteristic of autoimmune gastritis (AIG) is corpus-dominant advanced atrophy, which is mostly observed in the middle to late stages. More reports are needed on the endoscopic features of the early stage. In this report, we present two cases of early-stage AIG in which endoscopic examinations showed no atrophy of the gastric mucosa but displayed a transition of collecting venules from a regular to an irregular arrangement. In addition, yellowish-white cobblestone-like elevations were observed in the fundic gland region. Histologically, the observed manifestations included pseudohypertrophy and protrusion of parietal cells into the lumen, possibly along with hyperplasia of G cells, lymphocytic infiltration and potentially pseudopyloric gland metaplasia. Serologically, the anti-parietal cell antibody returned positive results, whereas the anti-intrinsic factor antibody yielded negative results. In this study, we summarized some endoscopic features of two patients, aiming to provide clues for endoscopists to detect early-stage AIG.
Project description:BackgroundTakotsubo syndrome is a stress-induced disease that makes up 2-3% of acute coronary syndrome cases. However, its onset mechanism remains unclear. Although females are overwhelmingly affected, males end up having more cardiac complications.Case presentationWe examined the differences in stress responses in the myocardium between sexes in patients with takotsubo syndrome. We biopsied samples from an over 70-year-old Japanese male and an over 80-year-old Japanese female. Tissues from the left ventricle apex in the acute phase and the apical ballooning-type were examined using histopathology and deoxyribonucleic acid (DNA) microarray analysis. Our data showed that left ventricular ejection fractions were 38% and 56%, and peak creatinine kinase concentrations during hospitalization were 629 U/L and 361 U/L, for the male and female patient, respectively. The pulmonary capillary wedge pressure was 26 mmHg and 11 mmHg for the male and female patient, respectively. Negative T did not return to normal in the male subject after 6 months. Histopathology results indicated that contraction band necrosis and lymphocyte infiltration were more common in the male subject.ConclusionsWe noticed that possible differences may exist between male and female patients using pathological examination and some DNA analyses. In particular, it may help treat acute severity in males. We will elucidate the mechanism of takotsubo syndrome development by increasing the number of samples to support the reliability of the data in the future.
Project description:Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, and chronic kidney disease. Infants may manifest only asymptomatic LMW proteinuria, which increases the difficulty of early diagnosis. We describe two male infants presenting only with nephrotic-range LMW proteinuria observed on examination using urine protein electrophoresis. Hereditary renal tubular diseases were highly suspected based on early onset age and LMW proteinuria. Thus, next-generation sequencing (NGS) was performed and pathogenic mutations in CLCN5 were identified in both patients. A diagnosis of Dent disease 1 was established based on the above informations. The two patients developed hypercalciuria during late follow-up, which verified the diagnosis. These two cases highlight the importance of next-generation sequencing in the early diagnosis of Dent disease 1 with only LMW proteinuria.
Project description:BACKGROUND:Massive gastrointestinal bleeding in children is uncommon. Dieulafoy lesion is an uncommon disease which may lead to massive and repeated upper gastrointestinal hemorrhage. We report two cases of gastric Dieulafoy lesion successfully treated with either band ligation or endoscopic hemoclipping. CASE PRESENTATION:First case report: A previously healthy 18-month-old female infant with E. coli sepsis, pneumonia and respiratory failure with bilateral pneumothorax requiring chest drainage. Over a few days, the patient presented hematemesis and melena with progressively worsening anemia. The esophagogastroduodenoscopy revealed an arterial vessel with eroded apex located between the body and the fundus of the stomach. Two elastic bands were applied which resulted in resolution of hematemesis and melena and improvement of the anemia. Second case report: A 8-year-old male was admitted to our department with sudden massive hematemesis and melena. Clinical examination revealed anemia (hemoglobin, 6.8?g/dl). Esophagogastroduodenoscopy revealed a mucosal erosion with visible vessel located along the small curvature, close to the antrum. Three hemostatic clips were placed on the Dieulafoy lesion and hemostasis was obtained. CONCLUSIONS:we showed that, similar to gastric DL in adult patients,, gastric DL in pediatric patients can be successfully treated with endoscopic therapy, and both hemoclipping and band ligation are suitable techniques.
Project description:Oxaliplatin is a key drug for colorectal cancer and causes peripheral neuropathy. Oxaliplatin-induced laryngopharyngeal dysesthesia is an acute peripheral neuropathy similar to a hypersensitivity reaction. Hypersensitivity reactions to oxaliplatin do not require immediate discontinuation, but re-challenge and desensitization therapy can be very burdensome for patients. We encountered 2 cases in which laryngopharyngeal dysesthesia could be differentiated from hypersensitivity reactions to oxaliplatin, and treatment could continue. The first case was that of a 58-year-old woman who developed dyspnea during the first course of combination therapy with capecitabine and oxaliplatin as the primary treatment for advanced rectal cancer. After laryngopharyngeal dysesthesia was differentiated from hypersensitivity reaction based on these typical symptoms, she was considered to have grade 3 (Common Terminology Criteria for Adverse Events [CTCAE] ver. 5) laryngopharyngeal dysesthesia. The second course of oxaliplatin was extended from 2 to 4 h, but symptoms recurred. The third course was performed with a reduced dose of oxaliplatin from 130 mg/m2 to 100 mg/m2, and the patient could complete the treatment without symptom recurrence. The second case involved a 76-year-old woman who developed grade 3 laryngopharyngeal dysesthesia during the first course of combination therapy with capecitabine and oxaliplatin as the primary treatment for localized colon cancer. Based on the experience of the first case, we reduced the oxaliplatin dose from 130 mg/m2 to 100 mg/m2 for the second course, and the patient completed the treatment without symptoms. This dose reduction was effective for grade 3 laryngopharyngeal dysesthesia caused by oxaliplatin without reducing therapeutic efficacy.
Project description:Recently, although some studies of open repair of the tendon of the quadriceps femoris have been published, there have been no reports in the literature on primary arthroscopic repair. In our present study, we present two cases of quadriceps tendon injury arthroscopically repaired with excellent results. Case 1 involved a 68-year-old man who was injured while shifting his weight to prevent a fall. MRI showed complete rupture at the insertion of the patella of the quadriceps tendon. The rupture was arthroscopically repaired using both suture anchor and pull-out suture fixation methods via bone tunnels (hereafter, pull-out fixation). Two years after surgery, retearing was not observed on MRI and both Japan Orthopedic Association (JOA) Knee and Lysholm scores had recovered to 100. Case 2 involved a 50-year-old man who was also injured when shifting his weight to prevent a fall. MRI showed incomplete superficial rupture at the insertion of the patella of the quadriceps tendon. The rupture was arthroscopically repaired using pull-out fixation of six strand sutures. One year after surgery, MRI revealed a healed tendon and his JOA and Lysholm scores were 95 and 100, respectively. Thus, arthroscopic repair may be a useful surgical method for repairing quadriceps tendon injury.
Project description:BackgroundVitamin K inhibitors (e.g. warfarin) and indirect thrombin inhibitors (e.g. heparin) are widely used to prevent thromboembolic disorders (e.g. myocardial infarction, venous thromboembolism, and stroke). These agents have been mainstays of anticoagulation for people older than 60 years. However, their administration is associated with a risk of bleeding and requires careful monitoring of patients. Novel oral anticoagulants (NOACs), such as dabigatran, are significantly safer in preventing thromboembolism than warfarin and heparin (sporadically causes thrombocytopenia) and are more specific for their target protein, thrombin. The major advantage of dabigatran, a direct thrombin inhibitor, is that it reversibly inhibits both free and clot-bound thrombin by tight binding affinity and the predictable pharmacodynamic effect. A few studies, however, reported that dabigatran can cause thrombocytopenia, although the underlying mechanism remains unclear. Thus, an antidote for dabigatran was developed to prevent thrombocytopenia.Case presentationIn this report, we discuss two cases of thrombocytopenia and purpura after dabigatran treatment. A 73-year-old man showed hemorrhagic necrotic skin lesions on his neck and right hand. He was administered dabigatran (220 mg/day) for cerebral infarction for three days and his platelet count decreased abruptly (6000/μL). This suggested that dabigatran had caused thrombocytopenia and purpura; therefore, dabigatran administration was discontinued. The results of a blood test, performed 14 days after stopping dabigatran treatment, showed that the platelet count had recovered to the normal range of more than 150,000/μL. A 75-year-old woman had taken warfarin continuously for 8 years. However, she had a new cerebral infarction. Therefore, warfarin treatment was replaced with dabigatran (300 mg/day). Her platelet count decreased (41,000/μL) significantly and dabigatran treatment was discontinued. The blood test results show that platelet counts gradually recovered to the normal range.ConclusionsDabigatran application may cause bleeding; therefore, careful monitoring during dabigatran treatment is required to prevent thrombocytopenia. An explanation is that the interaction of dabigatran with thrombin, because of its strong binding affinity, may cause the observed thrombocytopenia.
Project description:Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large subunit of microsomal triglyceride transfer protein (MTP; OMIM 157147). To date at least 33 MTP mutations have been identified in 43 ABL patients. We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for prevention of cardiovascular disease, defining the long-term clinical features of patients with a natural deficiency in MTP might provide some insight into the possible effects of such treatments. We review the range of clinical, biochemical and molecular perturbations in ABL.
Project description:Clinicians are regularly faced with the difficult challenge of diagnosing consciousness after severe brain injury. As such, as many as 40% of minimally conscious patients who demonstrate fluctuations in arousal and awareness are known to be misdiagnosed as unresponsive/vegetative based on clinical consensus. Further, a significant minority of patients show evidence of hidden awareness not evident in their behavior. Despite this, clinical assessments of behavior are commonly used as bedside indicators of consciousness. Recent advances in functional high-density electroencephalography (hdEEG) have indicated that specific patterns of resting brain connectivity measured at the bedside are strongly correlated with the re-emergence of consciousness after brain injury. We report case studies of four patients with traumatic brain injury who underwent regular assessments of hdEEG connectivity and Coma Recovery Scale-Revised (CRS-R) at the bedside, as part of an ongoing longitudinal study. The first, a patient in an unresponsive wakefulness state (UWS), progressed to a minimally-conscious state several years after injury. HdEEG measures of alpha network centrality in this patient tracked this behavioral improvement. The second patient, contrasted with patient 1, presented with a persistent UWS diagnosis that paralleled with stability on the same alpha network centrality measure. Patient 3, diagnosed as minimally conscious minus (MCS-), demonstrated a significant late increase in behavioral awareness to minimally conscious plus (MCS+). This patient's hdEEG connectivity across the previous 18 months showed a trajectory consistent with this increase alongside a decrease in delta power. Patient 4 contrasted with patient 3, with a persistent MCS- diagnosis that was similarly tracked by consistently high delta power over time. Across these contrasting cases, hdEEG connectivity captures both stability and recovery of behavioral trajectories both within and between patients. Our preliminary findings highlight the feasibility of bedside hdEEG assessments in the rehabilitation context and suggest that they can complement clinical evaluation with portable, accurate and timely generation of brain-based patient profiles. Further, such hdEEG assessments could be used to estimate the potential utility of complementary neuroimaging assessments, and to evaluate the efficacy of interventions.
Project description:BackgroundPitt-Hopkins syndrome (PTHS; MIM #610954) is a rare genetic neurological disorder. Myopia and strabismus have been reported in approximately 50% of PTHS patients. No studies have reported details about the required surgery for PTHS with strabismus and early-onset myopia. Here, we retrospectively reviewed the surgical management of two patients with PTHS combined with strabismus and/or early-onset myopia.Case summaryA 5-year-old girl presented with congenital esotropia and left eye myopia, and the second girl was a 5-year-old girl who presented with intermittent exotropia. Genetic testing performed on both patients showed a mutation in transcription factor 4, which is a diagnostic marker of PTHS. The first girl underwent bilateral medial rectus recession combined with posterior scleral reinforcement (PSR) in the left eye and the second patient underwent bilateral lateral rectus recession strabismus surgery. We made key innovations in surgical timing and strategy, and the results were satisfactory. The combination of strabismus and PSR surgery is an innovative strategy for patients with both strabismus and early-onset myopia.ConclusionEarly treatment of strabismus and myopia positively influence motor development and should be included in rehabilitation programs for patients with PTHS.