Clinical approach to inherited peroxisomal disorders: a series of 27 patients

To illustrate the clinical and biochemical heterogeneity of peroxisomal disorders, we report our experience with 27 patients seen personally between 1982 and 1997. Twenty patients presented with a phenotype corresponding either to Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease, 3 of whom had a peroxisomal disorder due to a single enzyme defect. One patient had a mild form of rhizomelic chondrodysplasia punctata, 1 had classic Refsum disease. Finally, 5 patients presented with clinical manifestations that were either unusually mild or completely atypical, and initially did not arouse suspicion of a peroxisomal disorder. They showed multiple defects of peroxisomal functions with one or several functions remaining intact, suggesting a peroxisome biogenesis disorder. The defect in peroxisome biogenesis was further characterized by variable expression in different tissues and/or individual cells in 5 patients. Studies restricted to fibroblasts failed to identify abnormalities in this group. We demonstrate that clinical manifestations of peroxisomal disorders may be very mild or completely atypical, and therefore, peroxisomal disorders should be considered in a variety of clinical settings. Furthermore, we suggest performing extensive peroxisomal investigations in every patient suspected of suffering from a peroxisomal disorder, even when the clinical presentation is typical.     

Long-term exposure of adults to outdoor air pollution is associated with increased airway obstruction and higher prevalence of bronchial hyperresponsiveness

Hepatitis C virus infection and rheumatic disorders are both common in the Middle East and share many clinical and immunological manifestations, raising diagnostic problems. We compared the prevalence of extrahepatic clinical manifestations and immunological disorders in 40 patients with chronic hepatitis C and in 42 carefully matched healthy controls. Polyarthralgia or polyarthritis was the most common rheumatic manifestation (35%) in the cases, followed by cutaneous vasculitis (15%). Glomerulonephritis and xerophthalmia were uncommon, and none of the cases had systemic vasculitis. Immunological abnormalities included serum rheumatoid factor (47.5%), cryoglobulins (30%), and one or more antitissue antibodies (37.5%). The prevalences of polyarthralgia, cutaneous vasculitis, rheumatoid factor, cryoglobulinemia, and anti-tissue antibodies were significantly higher in the hepatitis C group than in the control group. Our data suggest that patients in the Middle East who present with features of rheumatic or autoimmune diseases should be screened for hepatitis C.     

Arthralgias following dilation and curettage

The paper presents the results of examination of 110 alcoholic patients who have committed criminal actions and were recognized as irresponsible at forensic examination. It was established that wide spectrum of mental disorders were present in such cases--from superacute psychotic states (15 patients) and acute disorders (49) to chronic psychoses (33) and encephalopathy (13). According to clinical manifestations mental disorders correspond in such cases to reactions of exogenic type. In contrast to general medical departments where patients with alcoholic delirium prevail, the studied sample of patients had primarily psychoses with hallucinative-delirious and delirious disorders. Disorders of personality manifested as typical alcoholic, asthenoneurotic, psychopathic-like, residual-psychotic, psychoorganic changes and partial dementia (19 cases).     

Depression with obsession of contrast content

Twenty depressed patients (according to ICD-10) with obsessions of contrast content (homicidophobia--4 patients, suicidophobia--12, other contrast obsessions--4 cases) were examined. The affective disorders belonged to polar areas of a depressive spectrum: anxious depressions (with a prevalence of manifestations of positive affectivity in the form of somatopsychic hyperstesia) and existential depressions (with domination of manifestations of negative affectivity in the form of alienation of the vital functions). In anxious depressions there were compulsive obsessions of contrast content (12 patients), while in existential ones impulsive obsessions (8 cases). Compulsive obsessions of contrast contents (fear of a lack of self-control pronounced in the form of the attacks of lissophobia) were formed at the height of an anxious-depressive affect. Impulsive obsessions of contrast contents (fear of self-damage with elements of an obsessive drive to its realization) were formed during depressive devitalization and were exceeded by suicidal ideas. Comorbidity of depressive and obsessive manifestations was realized by a peculiar type of interrelations with formation of "convergent" symptoms which reflected an increase of severity of depressive disorders.     

A follow-up study of bone marrow chromosomes and in vitro colony growth in patients with mastocytosis

Proliferation of mast cells can give rise to many clinical manifestations in patients, and an association with hematological disorders has been pointed out. The study was initiated to determine whether patients with mastocytosis show a clinical progression in relation to bone marrow cell parameters analyzed. During a median follow-up period of 5.5 years, 10 patients with mastocytosis were re-examined with regard to clinical symptoms, urine histamine metabolites (U-MeImAA), bone marrow cells examined with chromosome analyses, and in vitro stem cell growth for CFU-GM. Seven patients showed a clinical progression with increase of either symptoms, bone marrow infiltrates of mast cells or U-MeImAA. One patient with a myeloproliferative bone marrow morphology had a malignant course. Four of the 7 patients showed an increased colony growth, while 3 showed a decreased growth, in the second examination compared with the first examination. One patient had a persistent clone with the chromosome aberration 9p+. A variable pattern was observed in the other patients, in resemblance with findings in chronic myeloproliferative disorders. Our conclusion is that mastocytosis belongs to the myeloproliferative disorders.     

Sleepiness and sleep disorders. Causes and consequences

Sleepiness and sleep disorders are prevalent in our society. Symptoms of sleepiness and complaints referable to sleep disorders have generally--and incorrectly--been discounted as being of minor importance and are often thought to be manifestations of psychological problems or character defects. It is now apparent that the cost to the American public--both to individuals and the larger society--is substantial. Sleep medicine has become established as an independent field, and knowledge of sleep, sleepiness, and sleep disorders has grown dramatically. This knowledge, when applied to individuals, will enhance the lives of patients with sleep disorders, and when applied to society as a whole, will have important socioeconomic implications.     

Inflammatory bowel disease

Although ulcerative colitis and Crohn's disease are relatively uncommon disorders, most primary care practices include a number of individuals with these diagnoses. Much of the initial evaluation and long-term care of these patients is managed or coordinated by their primary care physicians. A familiarity with current principles of diagnosis and treatment is essential. Ulcerative colitis and Crohn's disease are related, immunologically mediated disorders of unknown cause. Both are characterized by chronic relapsing courses, frequent need for surgical intervention, and increased colorectal cancer risk. Significant differences are seen between these two inflammatory bowel disease syndromes, in their histopathologic features, clinical manifestations, and response to treatment. This review focuses on the colorectal manifestations of inflammatory bowel disease, emphasizing clinical presentation, approach to diagnosis, medical and surgical management, and long-term prognosis.     

Acute iritis induced by granulocyte colony-stimulating factor used for mobilization in a volunteer unrelated peripheral blood progenitor cell donor

We describe a volunteer unrelated peripheral blood progenitor cell donor with previously diagnosed dermatitis herpetiformis in whom the administration of G-CSF for the mobilization of precursor cells induced acute iritis. G-CSF has been administered to healthy people with minimal side-effects but when used in patients with autoimmune disorders worsening of symptoms or new manifestations may be a potential concern.     

Respiratory complications of gastrointestinal diseases

Further advances in the ability to diagnose GER disease by use of ambulatory pH monitoring have unveiled a host of extraesophageal manifestations of GERD. These include pulmonary symptoms of asthma, recurrent pneumonia, cough or bronchitis, and infant apnea. Many of these symptoms may be the sole presentations of GER in these patients. It is important that the clinician is aware of these atypical presentations of GERD. The expanding use of ambulatory pH monitoring is helping to clarify the underlying pathophysiology of these disorders as well as to improve the ability to diagnose the atypical manifestations of GERD.     

Typology of prolonged anxious-phobic disorders with agoraphobia

There were studied 23 schizophrenic and cyclothymic patients with stable agoraphobia in the structure of anxiousphobic disorders (APD). No absolute correlation was found between stability of agoraphobia and severity of panic disorder (frequency and intensity of panic attacks). It was established that APD with manifestations of agoraphobia had been, perhaps, conditioned by the presence of comorbid disturbances in their structure which had determined peculiarities of the patients' behavior. Two types of prolonged APD with agoraphobic phenomena were recognized. Retention of agoraphobic disturbances in conditions of the first type was related to symptoms of generalized somatic disorder (generalized somatic anxiety) in clinical pattern of APD. Manifestations similar to panphobias prevailed, agoraphobic avoidance included all the situations in which the patient could find himself without help. In the states of the second type retention of agoraphobic disorders was conditioned by comorbidity of APD with asthenohypochondriac manifestations with somato-psychic fragility in their structure. Anxiety of expectation was formed in situations with emotional or physical tension. Agoraphobic avoidance in conditions of this type had displayed the character of preventive measures and one of manifestations of hypochondriac development of personality. The presence of pronounced anxiety (intensive panic attacks, generalized anxiety) in clinical pattern of prolonged agoraphobic conditions can serve a predictor of a favourable development of the disease.     

Idiopathic hypoparathyroidism--a rare disease?

Five patients with nonfamilial idiopathic hypoparathyroidism were observed in a peripheral hospital. There was no association with other autoimmune disorders such as hypothyroidism, adrenal insufficiency or pernicious anemia. Only in one patient with tetany was the diagnosis clinically obvious; all the others presented with unusual clinical symptoms. These manifestations of chronic hypocalcemia are presented, as well as the diagnostic workup and therapeutic management. We suggest that idiopathic hypoparathyroidism is not a very rare disease, but one which is often missed because of the unusual clinical picture.     

Extrapulmonary sarcoidosis

The clinical manifestations of sarcoidosis are extremely heterogeneous and overlap with a wide gamut of infectious and noninfectious granulomatous disorders. Prognosis of sarcoidosis is highly variable. Spontaneous remissions occur in nearly two thirds of patients, but chronic, progressive disease may result in severe sequelae. Fatalities occur in 1% to 4% of patients. Pulmonary manifestations typically dominate, but any organ can be affected. Skin, eye, and peripheral lymph nodes are each involved in 20% to 30% of patients. Clinically significant involvement of spleen, liver, bone, heart, kidney, or central nervous system occurs in 2% to 6% of patients. Asymptomatic involvement of these organs is far more common. We review the salient extrapulmonary features of sarcoidosis, and compare and contrast specific features that may mimic other etiologies.     

Feeding disorders in infancy: feeding interaction concept in diagnosis and treatment

In infancy clinical manifestations of psychological distress are mainly somatic. Feeding disorders are one of the most common and nonspecific manifestations of different kinds of disturbed parent-child relationships. These disturbances may have their origins in the baby's constitution and physical status, in the parent's personality structure, or both, as has been conceptualized in the transactional model of normal and abnormal development. Among the daily interactions a baby has with parents, feeding has special inherent impact on the early parent-child relationship because of its psychological meanings. Therefore, feeding disorders, with or without failure to thrive, often reflect various disorders of infancy, still not well recognized in the medical community, such as regulatory disorders, attachment disorders, depression of infancy, disorders of separation-individuation, and post-traumatic eating disorder. 3 clinical cases are brought to increase awareness of psychological distress in the infant, and of feeding disorders as 1 of its manifestations. Each illustrates a different kind of feeding disorder in terms of etiology and pathogenesis. Through these cases we emphasize the need for a multi-disciplinary, integrative approach in diagnosis and treatment. Our conceptual background is based both on the transactional model of development (infant and parental factors impact on each other) in a very dynamic paradigm, and on psychodynamic premises. Intrapsychic conflicts and past representations impact heavily on the parenting characteristics. We emphasize the psychological significance of disturbed feeding interactions, with or without failure to thrive.     

Adolescents'' image of their suicide attempt

Given the suspected role of mycobacteria in the establishment of disorders with an autoimmune background and joint damage, a study was conducted to analyze whether rheumatic symptoms were likely to be present in tuberculosis (TB) patients. To this end, 330 patients with a bacteriologic confirmation of tuberculosis were investigated for the presence of arthritic complaints. The latter were recorded in five of them with rheumatic symptoms mostly involving interphalangeal and metacarpophalangeal joints, and preceding the clinical manifestations of the TB illness. Three out of these five patients remained arthritic by the time of the bacteriologic conversion and fulfilled the criteria for the diagnosis of rheumatoid arthritis. In the two remaining patients sputum negativization was accompanied by a disappearance of rheumatic manifestations. These patients were also assessed for their peripheral levels of major T cell subsets as well as for the presence of autoantibodies. Comparisons with a series of non-arthritic TB cases, rheumatoid arthritis patients, and controls revealed that presence of rheumatic manifestations was associated with a different profile of autoantibody formation and T cell subset changes. Evidence recorded in the present study indicates that joint affectation in TB is a rare event, being rather the exception than the rule.     

Clinicopathologic manifestations of Epstein-Barr virus-associated cutaneous lymphoproliferative disorders

OBJECTIVE: To elucidate clinicopathologic manifestations of cutaneous lymphoproliferative disorders associated with Epstein-Barr virus (EBV) infection. DESIGN: Retrospective survey of case series. SETTING: University hospital medical center. PATIENTS: Sixty-five patients with cutaneous lymphomas and related disorders. MAIN OUTCOME MEASURES: Detection of EBV genes and EBV-encoded small nuclear RNAs. RESULTS: Evidence of latent EBV infection was demonstrated in 15 patients: 3 had malignant lymphoma with clinical features mimicking cytophagic histiocytic panniculitis, 6 had facial vesiculopapular eruptions mimicking hydroa vacciniforme, 4 had angiocentric lymphoma, 1 had histiocytoid lymphoma associated with hemophagocytosis, and 1 had plasmacytoma. Hypersensitivity to mosquito bites was noted in a patient with hydroa vacciniforme-like eruptions and another with histiocytoid lymphoma. Angiocentric infiltration of atypical lymphoid cells was a common histological feature in the patients with hydroa vacciniforme-like eruptions and angiocentric lymphoma. No evidence of EBV infection was apparent in 19 patients with mycosis fungoides or Sézary syndrome, 7 with adult T-cell leukemia or lymphoma, 3 with lymphomatoid papulosis (type A), and 2 with lymphocytoma cutis. CONCLUSION: Patients with EBV-associated cutaneous lymphoproliferative disorders present with unique and diagnostic clinicopathologic features distinct from those of mycosis fungoides or Sézary syndrome.     

Timing of recombinant human granulocyte colony-stimulating factor administration on neutropenia induced by cyclophosphamide in normal mice

Chagas' disease is an infectious disease that affects millions of people in Latin America and is increasingly seen outside endemic areas. A substantial number of patients develop gastrointestinal disorders secondary to lesions of the enteric nervous system. The purpose of this article is to review the current knowledge about gastrointestinal manifestations of Chagas' disease, including disorders other than the well-known gross dilations of esophagus and colon.     

Oral, facial and cranial manifestations of von Recklinghausen neurofibromatosis (NF)

19 patients with neurofibromatosis (NF) type 1 were evaluated retrospectively. Many patients presented not only with orocraniofacial neurofibromas but also with cranial skeletal deformities--involving skullbase, skull, orbit, midface and mandibula--and ophthalmological and dental symptoms, as well as neurological disorders. Malignant transformation of NF was observed in 1 case. Severe manifestations of NF were associated with the plexiform growth type. Due to the nature of NF surgical treatment most often is only palliative.     

Experience with a clinical parasitological examination in a clonorchiasis focus in the Amur River region

The clinical manifestations of clonorchiasis were studied in 190 patients in the Amur River region. The severity of the disease correlated with the excretion rates of Clonorchis eggs. The peculiarity of the region is a rather low egg excretion; 66.8% of patients excreted as many as 100 eggs/g, 27.3%, up to 1000 eggs/g. Most examinees (94.3%) suffered from chronic gastroduodenitis and functional disorders of the biliary system.     

Neurological manifestations of malignant and non-malignant dysglobulinaemias

The main neurological manifestations associated with malignant and non-malignant dysglobulinaemias are reviewed. These disorders are classified according to topographic features, pathological changes or association with specific plasma cell disorders. The main clinical, laboratory, immunological and pathological features are summarized. Knowledge of the pathogenesis in this group of disorders has clearly increased in recent years, allowing better diagnosis and treatment.     

Eating disorders. Guide to medical evaluation and complications

Eating disorders lead to numerous physical complaints with signs and symptoms affecting nearly every organ system of the body. We review the presentation of a patient with eating disorder to the primary care giver or general psychiatrist, focusing on the physical manifestations of the underlying illness. Specific complications related to laboratory findings, the gastrointestinal tract, and the endocrine system are reviewed. Algorithms for medical evaluation of these patients are also presented.