Specific Clinical Presentations Research Articles

Sindromi compressive dei nervi cutanei alla fascia della gamba

Entrapment syndromes are a group of peripheral nerves disorders characterized by neurological signs or vascular symptoms, due to chronic injury to the nerve as it travels from one body segment to the next. The two leading causes of this pathology are work postures and sports activities, the latter more and more common also in the elderly population. Nerve entrapment is generally caused by localized mechanical pressure from inelastic structures such as an osseoligamentous tunnel or by estrinsic compressions due to neoplasms or anatomic variations.Nerve damage is classified as neurapraxia and symptoms don’t often correlate with nerve damage or histological features. Repetitive injury to a nerve may initially result in microvascular (ischemic) changes in perineural venous system (vasa nervorum) leading to endoneurial edema formation, increase in intraneural pressures and further interference of endoneurial microcirculation with subsequent ipoxia. Injury to the outside layers of the nerve (myelin sheath) leads to perineural fibrosis and, in more advanced stages, focal segmental demyelination related to sclerosis at the area of compression. The diagnosis is made with a thorough clinical examination, allowing to identify the nerve involved in this painful condition and the area of compression and to define the severity of the disease. EMG and, rarely, MRI or echography complete the diagnostic pathway.Operative treatment is reserved for those patients in whom conservative treatment has been unsuccessful. Timing for surgery is dependent on knowing the different anatomical entrapment sites and their specific clinical presentations. Surgical treatment in the early stages of the disease is preferable, before chronic ischemic lesions lead to permanent sensory and motor impairment.

Treatment of Community-Acquired Pneumonia in an Ambulatory Setting

Community-acquired pneumonia continues to be a significant cause of morbidity and mortality despite broad-spectrum antibiotics and advances in critical care. Frequently, the diagnosis is confounded by coexisting cardiac or pulmonary conditions. Recognition of patients at risk for complications from pneumonia is critical when making the decision of how and where to treat. This review summarizes the diagnosis and treatment of community-acquired pneumonia with oral antibiotics in an outpatient setting. Specific pathogens and clinical presentations in certain at-risk populations are highlighted. Also presented are validated algorithms for evaluating and identifying patients who may be at risk for serious complications of pneumonia and require treatment in an inpatient setting.

Infective Endocarditis

Infective endocarditis is a microbial infection of a cardiac valve or the mural endocardium caused by bacteria or fungi. Forms of this infection include subacute bacterial endocarditis (SBE) and acute bacterial endocarditis (ABE). Etiology and epidemiology are discussed. There is a section on pathogenesis followed by specific clinical presentations, including endocarditis associated with parenteral drug abuse as well as prosthetic valve endocarditis (PVE). Diagnosis and cardiac complications of endocarditis, treatment, recommendations for prophylaxis, and prognosis are addressed. There are several figures showing manifestations and anatomic relations from the infection. Tables describe microorganisms that cause native valve endocarditis, the etiology of PVE, the Duke criteria for diagnosis of infective endocarditis, antimicrobial therapy for endocarditis in adults, guidelines to prevent endocarditis, and recommendations and regimens for endocarditis prophylaxis. This chapter contains 99 references.

Infective Endocarditis

Infective endocarditis is a microbial infection of a cardiac valve or the mural endocardium caused by bacteria or fungi. Forms of this infection include subacute bacterial endocarditis (SBE) and acute bacterial endocarditis (ABE). Etiology and epidemiology are discussed. There is a section on pathogenesis followed by specific clinical presentations, including endocarditis associated with parenteral drug abuse as well as prosthetic valve endocarditis (PVE). Diagnosis and cardiac complications of endocarditis, treatment, recommendations for prophylaxis, and prognosis are addressed. There are several figures showing manifestations and anatomic relations from the infection. Tables describe microorganisms that cause native valve endocarditis, the etiology of PVE, the Duke criteria for diagnosis of infective endocarditis, antimicrobial therapy for endocarditis in adults, guidelines to prevent endocarditis, and recommendations and regimens for endocarditis prophylaxis. This chapter contains 99 references.

Infective Endocarditis

Infective endocarditis is a microbial infection of a cardiac valve or the mural endocardium caused by bacteria or fungi. Forms of this infection include subacute bacterial endocarditis (SBE) and acute bacterial endocarditis (ABE). Etiology and epidemiology are discussed. There is a section on pathogenesis followed by specific clinical presentations, including endocarditis associated with parenteral drug abuse as well as prosthetic valve endocarditis (PVE). Diagnosis and cardiac complications of endocarditis, treatment, recommendations for prophylaxis, and prognosis are addressed. There are several figures showing manifestations and anatomic relations from the infection. Tables describe microorganisms that cause native valve endocarditis, the etiology of PVE, the Duke criteria for diagnosis of infective endocarditis, antimicrobial therapy for endocarditis in adults, guidelines to prevent endocarditis, and recommendations and regimens for endocarditis prophylaxis. This chapter contains 99 references.

Clinical isolates of Panton–Valentine leucocidin- and γ-haemolysin-producing Staphylococcus aureus: prevalence and association with clinical infections

Pantone-Valentine leucocidin (PVL) and gAMMA-haemolysin (Hlg) are members of the synergohymenotropic toxin family produced by Staphylococcus aureus and encoded by pvl and hlg genes, respectively. Many reports describe an association between PVL toxin and necrotic lesions involving skin and mucosa. The aim of this study was to determine the prevalence of S. aureus strains carrying pvl and hlg genes and to investigate a possible relationship between pvl- and hlg-positive S. aureus with specific clinical presentations. Between January 2005 and July 2007, a total of 143 S. aureus strains including 58 meticillin-resistant S. aureus (MRSA) and 85 meticillin-susceptible S. aureus were screened for pvl and hlg genes by multiplex polymerase chain reaction. These strains were isolated from 141 patients for whom demographic and clinical data were recorded. Thirty-one (21.7%) and 77 (53.7%) isolates were positive for pvl and hlg genes, respectively. Twenty-one (67.7%) pvl-positive strains were MRSA (P = 0.001). Among pvl-positive strains, 16 (51.6%) were community-acquired. There was a strong association between pvl genes and skin and soft tissue infections, especially abscesses (60% of strains; P = 0.008) and furunculosis (55.5% of strains; P = 0.036). Our findings confirmed the association between pvl-positive strains, cutaneous infections and meticillin resistance in S. aureus.

Propionibacterium acnes as an etiological agent of arthroplastic and osteosynthetic infections – Two cases with specific clinical presentation including formation of draining fistulae

This report describes two patients with orthopaedic implant infections, with specific clinical presentations including formation of draining fistulae. Propionibacterium acnes was isolated in multiple cultures in both cases. Phenotypic and genetic characterisation of the isolates clearly emphasizes the significance of P. acnes as an etiological agent of implant infections. These infections are insidious with delayed presentation of symptoms and may have been overlooked because of the consideration of P. acnes as a contaminating commensal as well as the frequent use of suboptimal culture procedures.

Isolated amygdala neurocysticercosis in a patient presenting with déjà vu and olfactory auras

Neurocysticercosis is the most common parasitic infection in the CNS and a leading cause of epilepsy. Since it is a circumscribed lesional cause of epilepsy, specific locations of neurocysticercal lesions may lead to specific clinical presentations. The authors describe a 17-year-old Hispanic boy who had a single enhancing bilobar mass in the right amygdala. Initially, the patient presented with secondarily generalized tonic-clonic seizures, which resolved with antiepilepsy drug therapy. On further investigation, he was found to have persistent olfactory and déjà vu auras. A right amygdalectomy without hippocampectomy was performed, and both the seizures and auras immediately resolved. Pathological analysis revealed neurocysticercosis. To the authors' knowledge, this case is the first reported instance of 2 distinct mesial temporal aura semiologies associated with localized neurocysticercosis in the amygdala and successfully treated with resection. Uniquely, the case demonstrates that both olfactory and déjà vu auras can emanate from the amygdala.

The presenting complaints of pediatric patients for chiropractic care: Results from a practice-based research network

The purpose of this study was to determine the range of presenting complaints by children (<18 years of age) to chiropractors and the reasons leading to attendance at a chiropractic clinic. Chiropractors and parents of children attending for chiropractic care (range 1–12 visits) completed a self-administered questionnaire. Based on chiropractor and parent responses, “wellness care” was the most common reason for pediatric presentation. Of the indicated specific clinical presentations, musculoskeletal complaints were the most common followed by non-musculoskeletal conditions of childhood. Pediatric presentation to chiropractors is for both musculoskeletal and non-musculoskeletal disorders in addition to wellness care.

Autoantibodies in celiac disease

Autoantibody production is an important feature of many autoimmune disorders, signifying a breakdown of immune tolerance to self-antigens. In celiac disease, an autoimmune enteropathy with multiple extra-intestinal manifestations, autoantibody reactivity to transglutaminase 2 (TG2) has been shown to closely correlate with the acute phase of the disease. It serves as a specific and sensitive marker of celiac disease, and is highly useful in aiding diagnosis and follow-up. Immune reactivity to other autoantigens, including transglutaminase 3, actin, ganglioside, collagen, calreticulin and zonulin, among others, has also been reported in celiac disease. The clinical significance of these antibodies is not known, although some may be associated with specific clinical presentations or extra-intestinal manifestations of celiac disease. This review examines the presence of anti-TG2 and other autoantibodies in celiac disease, discussing their diagnostic value, their potential role in disease pathogenesis and current hypotheses that explain how their release may be triggered.

Diagnostic Imaging Practice Guidelines for Musculoskeletal Complaints in Adults—An Evidence-Based Approach: Introduction

Purpose Imaging technology can improve patient outcomes by allowing greater precision in diagnosing and treating patients. However, there is evidence that overuse, underuse, and misuse of imaging services occur. The purpose of this project was to develop evidence-based diagnostic imaging practice guidelines for musculoskeletal complaints for use by doctors of chiropractic and other primary health care professionals. Methods An electronic search of the English and French language literature (phase 1) was conducted on several databases. Cross references, and references provided by clinicians, were also used. Independent assessment of the quality of the citations used to support recommendations in the guidelines was performed using the QUADAS, the AGREE, and the SPREAD evaluation tools. A first draft of a diagnostic imaging practice guideline was produced, using the European Commission's Referral Guidelines for Imaging document as a template. Results were sent to 12 chiropractic specialists for a first external review. A modified Delphi process, including 149 international experts, was used to generate consensus on recommendations for diagnostic imaging studies. The reliability of proposed recommendations was further tested on field chiropractors and on a group of specialists both in chiropractic and in medicine in both Canada and the United States. All recommendations were graded according to the strength of the evidence. Results The research procedure resulted in the recommendations for diagnostic imaging guidelines of adult extremity and spine disorders supported by more than 685 primary and secondary citations. High levels of agreement among Delphi panelists were reached for all proposed recommendations. Comments received by specialists were generally very favorable and reflected high levels of agreement with the proposed recommendations, perceived ease of use of guidelines, and implementation feasibility. Conclusions These evidence-based diagnostic imaging practice guidelines are intended to assist chiropractors and other primary care providers in decision making on the appropriate use of diagnostic imaging for specific clinical presentations. In all cases, the guidelines are intended to be used in conjunction with sound clinical judgment and experience. Application of these guidelines should help avoid unnecessary radiographs, increase examination precision, and decrease health care costs without compromising the quality of care. All guidelines are documents to be refined and modified regularly with new information and experience.

Gaucher disease

Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme β-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow. Osteoarticular manifestations are often inaugural and contribute much of the morbidity and disability associated with Gaucher disease. There are three types of Gaucher disease. The most common is type 1, which can produce a broad range of presentations characterized by cytopenia and involvement of the spleen, liver, and bone marrow. Types 2 and 3 are rarest variants that manifest in infancy and cause neurologic damages. Patients with type 2 Gaucher disease usually die before 2 years of age. β-glucocerebrosidase assays and examination of bone marrow smears and biopsies ensure the diagnosis. Specific mutations in the β-glucocerebrosidase gene are associated with specific clinical presentations: thus, the N370S mutation (heterozygous or homozygous) confers type 1 disease and the L444P mutation neurologic involvement and type 3 disease. Bone involvement is a feature in 70%–100% of cases. Abnormal bone remodeling, osteonecrosis and bony infarcts, osteopenia with fractures, and more rarely infections may occur. The other manifestations are dominated by cytopenia (thrombocytopenia, neutropenia, or anemia), hypersplenism, and liver enlargement. The risk of myeloma is increased. Parkinson-like syndromes were recently described in patients with type 1 disease. The enzyme chitotriosidase can be assayed to quantify the degree of macrophage activation. The chemokine CCL18 is another valuable marker but is not readily available in everyday practice. The treatment of Gaucher disease includes symptomatic drugs to relieve pain. Splenectomy is rarely necessary now that specific treatments are available. Enzyme replacement therapy (imiglucerase) has considerably improved the management of the highest risk patients. More recently, an enzyme inhibitor that decreases the production of the substrate (miglustat) was introduced. Chemical chaperone therapy and gene therapy hold promise for the future.

Myotonic Dystrophy in a Female with Myasthenia Gravis

The likelihood of coexistence in the same patient of myasthenia gravis and myotonic dystrophy has been estimated at 1 in 40 million. The case of a patient in whom both diagnoses were made is reported here. A 13-year-old girl was diagnosed with myasthenia gravis because of weakness, fluctuating fatigability, and mild difficulty with chewing and swallowing. She had ptosis, with weakness predominantly of her face, arms, and neck. Serum antibodies against acetylcholine receptors were 9.9 nmol/L. She was started on pyridostigmine, with significant clinical improvement, reassuming normal daily activities. Two years later, generalized weakness reappeared and reappraisal of her symptomatology disclosed tongue percussion and hand action myotonia. Molecular genetic analysis disclosed 550 repeats of cytosine-thymidine-guanosine triplets on the DMPK gene. Undiagnosed relatives had expansions ranging from 110 to 1000 repeats. Myotonic dystrophy is considered the most common muscular dystrophy, with highly variable clinical manifestations; mildly affected individuals may escape clinical detection. Myasthenia gravis has an estimated prevalence of 15 per 100,000. No studies on the epidemiology of these diseases have been done in Chile. Although both diseases have specific clinical and laboratory presentations, they share some features in the mode of presentation that may generate difficulty in diagnosis of both entities in the same patient.

Differential diagnosis and evaluation in pediatric multiple sclerosis

The differential diagnosis for multiple sclerosis (MS) in childhood and adolescence includes infectious, inflammatory, and neoplastic disorders as well as metabolic neurogenetic leukodystrophies, toxic leukodystrophies, and vascular conditions. The evaluation is determined by the clinical and neuroradiologic presentation. A minimal diagnostic battery is proposed. More expanded evaluations are indicated for specific or atypical clinical presentations.

Guideline 8: Patient 1: Provisional Diagnosis of a Psychotic DisorderQuestions 20-26

The Expert Consensus Guideline Series: Treatment of Behavioral Emergencies 2005: Guidelines: II. Assessment and Treatment of Patients with Specific Clinical Presentations

Guideline 9: Patient 2: Provisional Diagnosis of Severe ManiaQuestions 27-36

The Expert Consensus Guideline Series: Treatment of Behavioral Emergencies 2005: Guidelines: II. Assessment and Treatment of Patients with Specific Clinical Presentations

Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation

Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained after screening 80 non-consanguineous FA patients referred from all regions of Brazil with a clinical diagnosis of FA supported by cellular hypersensitivity to diepoxybutane. We were able to detect the 3788-3790del allele in 24 of the 80 (30%) FA patients studied. Thirteen of the 80 (16.25%) were homozygotes and 11 of the 80 (13.75%) were compound heterozygotes, thus confirming the high frequency of the FANCA 3788-3790del mutation in Brazilian FA patients. The identification of patients with specific mutations in the FA genes may lead to a better clinical description of this condition, also providing data for genotype-phenotype correlations, to a better understanding of the interaction of this specific mutation with other mutations in compound heterozygote patients, and ultimately to the right choices of treatment for each patient with improvement of the prognosis on future studies.

Langerhans cell histiocytosis patients have HLA Cw7 and DR4 types associated with specific clinical presentations and no increased frequency in polymorphisms of the tumor necrosis factor alpha promoter.

Current theory on the etiology of Langerhans cell histiocytosis (LCH), formerly Histiocytosis-X, is that abnormality(ies) of the immune system are responsible for dysregulation of Langerhans cells (LC) in patients' lesions. Among the known abnormalities in LCH patients are increased amounts of tumor necrosis factor alpha (TNF-alpha) and other cytokines in the lesions. We investigated the human leukocyte antigen (HLA) phenotypes of 29 patients and 37 healthy family members to determine if any haplotypes segregate with the presence or locations of the disease. The lymphocyte subsets for 22 patients and 11 family members were also determined. Patients with single bone, multiple bone, or multi-system LCH had different relative proportions of HLA types. Patients presenting with single bone disease had an especially high frequency of the DR4 type. In this patient group, every Caucasian patient had either Cw7 or DR4. Lymphopenia was documented in patients who had been off therapy as well as those who only had surgical curetage of their lesions. Family members also had low numbers of T lymphocytes. There were fewer mutations of the TNF-alpha promoter in patients than in the general population. Although there is an increased percentage of LCH patients with DR4 and/or Cw7 there was also an increased prevalence of this antigen as well as lymphopenia among unaffected family members. Additional genetic and/or environmental factors are necessary to explain this association. TNF-alpha promoter mutations are not responsible for the increased production of this cytokine.

Inflammatory bowel disease: Medical therapy of specific clinical presentations

Ulcerative colitis and Crohn's disease are chronic relapsing inflammatory disorders of the gastrointestinal tracts. The inflammatory process is restricted to the mucosa and submucosa of the colon in ulcerative colitis and is transmural and may occur anywhere in the gastrointestinal tract in Crohn's disease. Clinical presentation of these inflammatory disorders depends on the segments of digestive tract affected and on the extent and aggressiveness of the disease process. The treatment of specific clinical presentations of these disorders is discussed in this article.

Diagnostic pitfalls in congenital right diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a rare disease of newborns. Right-sided diaphragmatic hernia is even rarer. The clinical and radiological presentations, which are well documented in left-sided diaphragmatic hernia, are variable in right-sided diaphragmatic hernia. This makes the diagnosis of right-sided diaphragmatic hernia more difficult. During a 12-year period, seven cases of right-sided diaphragmatic hernia were collected from a single institution. Their presentations and clinical courses have been reviewed. Low prenatal diagnostic rate, various roentgenogram expressions after birth, and absence of specific clinical presentations were noted. These expressions may become pitfalls in diagnosis and lead to inappropriate treatment. From our experience in these 7 cases and a brief literature review, we try to emphasize the characteristics and the diagnostic pitfalls of this disease. In conclusion, right-sided congenital diaphragmatic hernia has a variable clinical spectrum with high mortality and morbidity. Careful evaluation of the clinical presentations, ultrasonography and chest films is mandatory for precise diagnosis.