scholarly journals Bleeding Disorders Associated with Abnormal Platelets: Glanzmann Thrombasthenia and Bernard-Soulier Syndrome

Platelets ◽  
2020 ◽  
Author(s):  
Muhammet Mesut Nezir Engin
Keyword(s):  
Differential Diagnosis ◽  
Clinical Findings ◽  
Current Medical ◽  
Platelet Surface ◽  
Historical Process ◽  
Glanzmann Thrombasthenia ◽  
Surgical Interventions ◽  
Platelet Disorders ◽  
Bernard Soulier Syndrome

Platelets, the smallest cells in the blood, are associated with hemostasis, bowel formation, tissue remodeling, and wound healing. Although the prevalence of inherited platelet disorders is not fully known, it is a rare disease group and is encountered in approximately between 10000 and 1000000. Glanzmann thrombasthenia (GT) and Bernard-Soulier syndrome (BSS) are more frequently observed in inherited platelet disorders. In GT, the platelet aggregation stage due to deficiency or dysfunction of the platelet GPIIb/IIIa complex cannot take place. BSS is a platelet adhesion disorder due to the absence or abnormality of GPIb/IX complex on the platelet surface. If there is bleeding after easy bruising, mucous and oral cavities, menorrhagia, tooth extraction, tonsillectomy, or other surgical interventions, inherited platelet dysfunction should be considered if the platelet count is normal while the bleeding time is long. Firstly, other causes should be investigated by making differential diagnosis of GT and BSS. In this chapter, the definition, etiology, historical process, epidemiology, genetic basis, pathophysiology, clinical findings, diagnosis, differential diagnosis, and the follow-up and treatment approach of GT and BSS will be reviewed according to the current medical literature.

scholarly journals Multicenter Study of Buruli Ulcer Disabilities in the Head and Neck Region

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Pius Agbenorku
Keyword(s):  
Head And Neck ◽  
Functional Disability ◽  
Buruli Ulcer ◽  
Neck Region ◽  
Clinical Findings ◽  
Head And Neck Region ◽  
Surgical Interventions ◽  
Ulcer Disease ◽  
Total Hospital Stay

Objective. To identify disabilities caused by Buruli Ulcer Disease (BUD) when it affects the Head and Neck Region (HNR) of patients in endemic areas and suggest possible ways to overcome the complications involved. Methods. Data for the study was collected from six different hospitals in the central part of Ghana from 2004–2009. Diagnosis of BUD was based on clinical findings and confirmed by positive result of Ziehl-Neelson Test for Acid Fast Bacilli, Polymerase Chain Reaction, or Histopathology. Treatment of BUD involved a combination of surgical interventions and antimycobacterial chemotherapy for 8 weeks. Results. The age of the 38 patients ranged from 0–56 years (mean age of 14.3 years), with males outnumbering females. Most (55.3%, ) of the patients reported to the facilities with developed BUD deformities. Patients who lost their eyeball () recorded the highest in terms of functional disability. A mean total hospital stay of 52 days and follow-up period of 2.3 years were recorded for the study. Conclusion. Visual impairment was the commonest form of disability recorded in the HNR. Management difficulties and BUD disabilities could be avoided by early detection of the disease and training of health professionals at district levels.

scholarly journals Early treatment of anterior open bite with functional orthopedic appliances. A case report

2017 ◽  
Vol 22 (2) ◽  
pp. 20-26
Author(s):  
Ana María Valencia ◽  
Ana María Hurtado ◽  
Jesús Alberto Hernández
Keyword(s):  
Clinical Findings ◽  
Open Bite ◽  
Respiratory Pattern ◽  
Orthopedic Treatment ◽  
Anterior Open Bite ◽  
Surgical Interventions ◽  
Functional Relationships ◽  
Clinical Changes ◽  
Skeletal Open Bite

Anterior open bites are characterized by altered occlusal relationships. They cause discrepancies at the jaws that trigger a parafunctional muscular imbalance throughout the stomatognathic system.When this alteration is intervened early,  again of normal functions can be achieved but also intervention causes facial changes that improve the aesthetics of the patient. It is important to take into consideration the complexity and the multifactorial etiology of anterior open bites to achieve their correction and long-term clinical stability. Different therapeutic approaches have been described for the treatment of anterior open bites including: orthodontics, functional orthopedics and even surgical interventions. Here We present a clinical case of a seven-year-old male patient who consulted for orthopedic treatment of an anterior open bite. Clinical findings determined a Class II cephalometric malocclusion with anterior skeletal open bite, oral respiratory pattern and atypical swallowing. Orthopedic treatment was done using Simoes Network 2 (SN2) functional appliances. At the first year of follow-up facial and intraoral clinical changes were noted. During the second year of follow-up radiographic changes showed improvement in craniofacial and functional relationships.  

scholarly journals Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

Hematology ◽  
2013 ◽  
Vol 2013 (1) ◽  
pp. 268-275 ◽  
Author(s):  
Reyhan Diz-Küçükkaya
Keyword(s):  
Laboratory Tests ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Molecular Characteristics ◽  
Functional Abnormality ◽  
Excessive Bleeding ◽  
Glanzmann Thrombasthenia ◽  
Platelet Disorders ◽  
And Function ◽  
Bernard Soulier Syndrome

Abstract Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause excessive bleeding beginning in early childhood, most of IPDs have mild bleeding tendencies and therefore are not always easy to distinguish from acquired platelet disorders. The diagnosis of IPD may require extensive laboratory investigation, because current routine laboratory tests are not satisfactory for differential diagnosis in some cases, and most of the specific tests are not readily available in many countries. This review summarizes the classification and clinical and molecular characteristics of known IPDs, including Bernard-Soulier syndrome and Glanzmann thrombasthenia, with a focus on current challenges in the laboratory diagnosis and management of bleeding in these patients.

Microscopic Esophageal Sloughing Is Not Specific to “Sloughing Esophagitis”

2020 ◽  
Author(s):  
Mark G Ettel ◽  
Raul S Gonzalez
Keyword(s):  
Differential Diagnosis ◽  
Clinical Diagnosis ◽  
Squamous Epithelium ◽  
Clinical Findings ◽  
Microscopic Appearance

Abstract Objectives “Sloughing esophagitis” (SE) is characterized by a 2-toned squamous epithelium with superficial necrotic keratinocytes overlying viable epithelium. We compared histologic and clinical findings to determine how cases clinically diagnosed as SE differed from cases with histologic sloughing but a different clinical diagnosis. In addition, we compared cases with inflammatory and noninflammatory histology. Methods We searched departmental archives for esophageal biopsies with histologic sloughing features. We compared clinical and histologic findings for cases with and without clinical confirmation of SE and with and without histologic inflammation. Results We identified 52 patients, of whom 10 (19%) had clinically diagnosed SE, 18 (35%) had another diagnosis, and 24 (46%) had an unclear diagnosis. Endoscopic sloughing tended to be reported more often in cases with SE (P = .07). Histologic features did not discriminate between SE and other etiologies. Esophagitis resolved in 18 of 31 patients with follow-up, with no difference between sloughing and nonsloughing cases (P = .26). There were no clinical differences based on inflammatory and noninflammatory histology. Conclusions SE has a classic microscopic appearance, but its findings are not specific, although endoscopic sloughing helps correlate histologic and clinical findings. In cases with histologic sloughing, pathologists should raise a broad differential diagnosis.

Improving diagnosis of acute appendicitis with atypical findings by Tc-99m HMPAO leukocyte scan

2002 ◽  
Vol 41 (01) ◽  
pp. 37-41 ◽  
Author(s):  
S. Shung-Shung ◽  
S. Yu-Chien ◽  
Y. Mei-Due ◽  
W. Hwei-Chung ◽  
A. Kao
Keyword(s):  
Acute Appendicitis ◽  
False Positive ◽  
False Positive Rate ◽  
Accurate Method ◽  
Clinical Findings ◽  
Pathological Findings ◽  
Lower Quadrant ◽  
Predictive Values ◽  
Positive Rate

Summary Aim: Even with careful observation, the overall false-positive rate of laparotomy remains 10-15% when acute appendicitis was suspected. Therefore, the clinical efficacy of Tc-99m HMPAO labeled leukocyte (TC-WBC) scan for the diagnosis of acute appendicitis in patients presenting with atypical clinical findings is assessed. Patients and Methods: Eighty patients presenting with acute abdominal pain and possible acute appendicitis but atypical findings were included in this study. After intravenous injection of TC-WBC, serial anterior abdominal/pelvic images at 30, 60, 120 and 240 min with 800k counts were obtained with a gamma camera. Any abnormal localization of radioactivity in the right lower quadrant of the abdomen, equal to or greater than bone marrow activity, was considered as a positive scan. Results: 36 out of 49 patients showing positive TC-WBC scans received appendectomy. They all proved to have positive pathological findings. Five positive TC-WBC were not related to acute appendicitis, because of other pathological lesions. Eight patients were not operated and clinical follow-up after one month revealed no acute abdominal condition. Three of 31 patients with negative TC-WBC scans received appendectomy. They also presented positive pathological findings. The remaining 28 patients did not receive operations and revealed no evidence of appendicitis after at least one month of follow-up. The overall sensitivity, specificity, accuracy, positive and negative predictive values for TC-WBC scan to diagnose acute appendicitis were 92, 78, 86, 82, and 90%, respectively. Conclusion: TC-WBC scan provides a rapid and highly accurate method for the diagnosis of acute appendicitis in patients with equivocal clinical examination. It proved useful in reducing the false-positive rate of laparotomy and shortens the time necessary for clinical observation.

Follow-up of Osteomyelitis of Infants with Systemic Serum Parameters and Bone Scintigraphy

1996 ◽  
Vol 35 (04) ◽  
pp. 116-121 ◽  
Author(s):  
G. E Fueger ◽  
M. Vejda ◽  
R. M. Aigner
Keyword(s):  
Bone Scintigraphy ◽  
Antibiotic Treatment ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Laboratory Findings ◽  
Radiographic Findings ◽  
Serum Parameters ◽  
Wbc Count ◽  
Differential White Blood Cell

Summary Aim: To prevent orthopedic sequelae in acute hematogenous pyogenic osteomyelitis (AHPO) of infants early diagnosis, recognition of recurrence and effective therapy is needed. This retrospective study of 47 infants with bacteriologically confirmed AHPO concerned with an analysis of the diagnostic value of systemic serum parameters compared to bone scintigraphy (BSC). Methods: AHPO was characterized initially and during the course of disease by clinical findings, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), total and differential white blood cell (WBC) count, BSC, and plain radiography. Results: CRP was the most effective serum parameter for follow- up of disease. The first sign of BSC to signal adequate response to antibiotic treatment was the decrease or normalization of hyperperfusion. Escape from therapy or poor prognosis, even when the serum parameters were normalized, was signaled by the recurrence of focal hyperperfusion and the persistent or increasing local uptake ratios on the 3-h-image over 6 weeks during a course of antibiotic treatment. Conclusion: Antibiotic treatment masks the clinical presentation, and the radiographic findings, causes non-characteristic laboratory findings, but do not prevent the scintigraphic visualization; BSC and serum parameters used in the right completion are the most successful and efficient modalities for follow-up of AHPO. Maintenance of antibiotic therapy should be done until BSC findings have reverted to normal.

Obesity management through Ayurveda - A Case Study

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .
Keyword(s):  
Clinical Findings ◽  
Dietary Habit ◽  
Unhealthy Lifestyle ◽  
Lifestyle Management ◽  
Before And After ◽  
Effect Of Treatment ◽  
And Control

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.

scholarly journals Primary breast tuberculosis: imaging findings of a rare disease

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Ali H. Baykan ◽  
Hakan S. Sayiner ◽  
Ibrahim Inan ◽  
Elcin Aydin ◽  
Sukru M. Erturk
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Extrapulmonary Tuberculosis ◽  
Reproductive Age ◽  
Malignant Diseases ◽  
Imaging Findings ◽  
Granulomatous Mastitis ◽  
Rare Form ◽  
Breast Tuberculosis

AbstractBreast tuberculosis is a rare form of extrapulmonary tuberculosis which tends to affect females of reproductive age, and is much rarer in males, postmenopausal women, and pre-pubescent girls. It is difficult to diagnose because it can mimic benign conditions such as a fibroadenoma, as well as malignant diseases like a carcinoma. It is also particularly difficult to distinguish breast tuberculosis from granulomatous mastitis, so other possible diagnoses should be ruled out first. The diagnosis of breast tuberculosis has three essential pillars: clinical examination, radiological evaluations, and histopathological sampling. Radiological evaluations are not only critical in diagnosis but are also important in the planning of the treatment and during the follow-up. This paper aims to review the imaging findings and the differential diagnosis of breast tuberculosis.

Endoscopy-assisted removal of periorbital inclusion cysts in children

2011 ◽  
Vol 7 (2) ◽  
pp. 161-164 ◽  
Author(s):  
George Chater-Cure ◽  
Caitlin Hoffman ◽  
Jared Knopman ◽  
Samuel Rhee ◽  
Mark M. Souweidane
Keyword(s):  
High Speed ◽  
Complete Removal ◽  
Skin Incision ◽  
Clinical Findings ◽  
Complete Excision ◽  
Alternative Approach ◽  
Cyst Recurrence ◽  
Scalp Incision ◽  
Access Technique

Object Surgical treatment for periorbital inclusion cysts typically involves a brow, pterional, or partial bicoronal scalp incision for sufficient exposure. The authors have recently employed an endoscopy-assisted technique as an alternative approach intended to minimize the length of the skin incision and avoid scarring in the brow. Methods Children having typical clinical findings of a dermoid cyst located on the hairless forehead were selected to undergo endoscopy-assisted cyst removal. For suspected intradiploic lesions, MR imaging was used to assess osseous involvement. After induction of general anesthesia, a 1–2-cm curvilinear incision was made posterior to the hairline. A 30°-angled endoscope (4 mm) was then used for dissection in the subgaleal compartment. Subgaleal dissection was followed by a circumferential periosteal incision in which the authors used an angled needle-tip unipolar cautery. For lesions within the diploe, a high-speed air drill was used to expose the lesion. Complete removal was accomplished with curettage of either the skull or dural surface. Results Eight patients (5–33 months of age) underwent outpatient endoscopic resection. Seven cysts were extracranial, and 1 cyst extended through the inner table. In all patients complete excision of the cyst was achieved. There was negligible blood loss, no dural violation, and no postoperative infection. There have been no recurrences at a mean follow-up of 15 months. Conclusions Endoscopy-assisted resection of inclusion cysts of the scalp and calvaria is a safe and effective surgical approach. The technique results in negligible incisions with less apparent scarring compared with previously described incisions. This limited-access technique does not appear to be associated with a higher incidence of cyst recurrence.

scholarly journals The Long-Term Follow-Up of Patients with Cystine Stones: A Single-Center Experience for 13 Years

2021 ◽  
Vol 10 (7) ◽  
pp. 1336
Author(s):  
Toshifumi Takahashi ◽  
Shinya Somiya ◽  
Katsuhiro Ito ◽  
Toru Kanno ◽  
Yoshihito Higashi ◽  
...  
Keyword(s):  
Surgical Intervention ◽  
Median Number ◽  
Small Sample ◽  
Age At Diagnosis ◽  
Surgical Interventions ◽  
Significant Difference ◽  
Long Term Follow Up ◽  
Cystine Stones

Introduction: Cystine stone development is relatively uncommon among patients with urolithiasis, and most studies have reported only on small sample sizes and short follow-up periods. We evaluated clinical courses and treatment outcomes of patients with cystine stones with long-term follow-up at our center. Methods: We retrospectively analyzed 22 patients diagnosed with cystine stones between January 1989 and May 2019. Results: The median follow-up was 160 (range 6–340) months, and the median patient age at diagnosis was 46 (range 12–82) years. All patients underwent surgical interventions at the first visit (4 extracorporeal shockwave lithotripsy, 5 ureteroscopy, and 13 percutaneous nephrolithotripsy). The median number of stone events and surgical interventions per year was 0.45 (range 0–2.6) and 0.19 (range 0–1.3) after initial surgical intervention. The median time to stone events and surgical intervention was 2 years and 3.25 years, respectively. There was a significant difference in time to stone events and second surgical intervention when patients were divided at 50 years of age at diagnosis (p = 0.02, 0.04, respectively). Conclusions: Only age at a diagnosis under 50 was significantly associated with recurrent stone events and intervention. Adequate follow-up and treatment are needed to manage patients with cystine stones safely.

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