Distinct Clinical Disorder Research Articles

Orthorexia nervosa versus healthy orthorexia: Anxiety, perfectionism, and mindfulness as risk and preventative factors of distress.

Orthorexia nervosa is a recently conceptualised pathological entity presenting as an obsessive focus on healthy eating with associated psychosocial impairment. The present study investigated the differential associations between orthorexia nervosa and healthy orthorexia with distress and impairment. With a community sample (N = 268) multiple measures of orthorexia nervosa and health orthorexia were compared as explanatory variables in mediation structural equation modelling (SEM). Outcome variables assessed and investigated were psychological distress while demographic variables were controlled. The mediating roles of perfectionism and health anxiety on orthorexia nervosa were examined with further preventative mediation role of mindfulness on distress. Distinctive to other eating disorders, gender showed no significant effects on orthorexia nervosa and healthy orthorexia. Signalling measurement issues for this disorder, the different measures of orthorexia nervosa resulted in mixed findings regarding body mass index and age. Findings supported perfectionism and health anxiety as risk factors, as well as mindfulness acceptance as a preventative factor in both orthorexia nervosa and healthy orthorexia. Orthorexia nervosa and healthy orthorexia assessed by most measures, contrary to the expectations, had significant positive associations with psychological distress indicated by stress, anxiety, and depression. The complexity in differentiating orthorexia nervosa from healthy orthorexia calls for further investigation. This research effort should serve to substantiate the status of orthorexia nervosa as a distinct clinical disorder.

Problematic Internet Use among adolescents and young adults: a systematic review of scholars’ conceptualisations after the publication of DSM5

Scholars’ opinions vary considerably regarding many different aspects of Problematic Internet Use (PIU), including whether it should be conceptualised as an addiction, whether it has to be seen as a discrete category or as the pole of a “normal” to pathological continuum, and whether and how the relationship between a person’s characteristics and socio-cultural environment needs to be considered. The aim of the present study is to qualitatively review the evolving body of literature on PIU among adolescents in relation to the three above-mentioned issues, in order to examine how far existing research has progressed since the publication of DSM-5. Following PRISMA guidelines, studies from 2014 to 2019 identified by a search on SCOPUS and Google Scholar were collected. The PIU conceptualisations employed in studies among adolescents and young adults were analysed. Results showed that the debate on PIU as a form of addiction or a distinct clinical disorder is far from over; nonetheless, in the scientific literature about PIU among adolescents and young adults the idea of Internet use as a way to compensate for unsatisfied needs is growing, calling for a better appreciation of what happens in the life-contexts to explain how youths move to/away from PIU over time.

16741 Pediatric patients with orofacial granulomatosis likely to develop intestinal Crohn disease

Orofacial granulomatosis (OFG) is a rare mucocutaneous disorder characterized by persistent granulomatous perioral inflammation in the absence of systemic disease. There is continued debate regarding whether OFG is a distinct clinical disorder or a manifestation of orofacial Crohn disease (CD) given indistinguishable clinical and histologic features. We aimed to determine if there is a relationship between a diagnosis of biopsy-proven OFG in the absence of systemic disease and the subsequent diagnosis of intestinal CD in a pediatric patient population. A retrospective chart review from 2000 to 2018 at a single tertiary pediatric hospital was performed. Seven patients met inclusion criteria of receiving a diagnosis of OFG in the absence of previous or concurrent diagnosis of inflammatory bowel disease. Four patients were subsequently diagnosed with intestinal CD during the study period with a median time to diagnosis of 36 months (range 4-72 months). The remaining three patients have no diagnosis of intestinal CD to date with a median follow-up time of 3 months (range 2-17 months). Similar to previous studies, our case series demonstrates that pediatric patients diagnosed with OFG are likely to receive a subsequent diagnosis of intestinal CD. At minimum, Gastroenterology evaluation is warranted with long-term monitoring for any signs of intestinal CD.

Pediatric patients with orofacial granulomatosis likely to subsequently develop intestinal Crohn's disease: Brief Report.

Orofacial granulomatosis (OFG) is an uncommon chronic granulomatous condition presenting as perioral inflammation in the absence of systemic disease. There is continued debate regarding whether OFG is a distinct clinical disorder or a manifestation of orofacial Crohn's disease. Our retrospective review identified 7 patients diagnosed with OFG between 2000 and 2018 at a tertiary pediatric hospital. Four of the 7 patients subsequently developed Crohn's disease with a median delay of 3.1years (range 0.4-6.9years). This indicates that gastroenterology evaluation with long-term monitoring for intestinal Crohn's disease is warranted.

Intravenous Corticosteroid Therapy for Bilateral Parsonage-Turner Syndrome

Parsonage-Turner syndrome (PTS) is a distinct clinical disorder characterized by pain, sensory loss, and impaired mobility of the upper extremities and, less commonly, the lower extremities. Manifestations vary from minor to fairly extensive involvement of the brachial and/or lumbosacral plexus. No evidence-based treatment protocol exists, with only anecdotal support of varied palliative efforts. We describe a case of PTS in an otherwise healthy 19-year-old man presenting with severe neuropathic pain in the right upper extremity progressing to include weakness and contralateral extremity involvement. Intravenous corticosteroids were initiated with resolution of the pain after the first day of therapy and improvement in muscular strength throughout his hospitalization. This case supports the use of intravenous corticosteroids in the literature as a treatment option for PTS to ameliorate intractable pain as well as to impede the progression of motor dysfunction.

984 – Psychopathological symptoms and co-morbid disorders associated with internet addiction and pathological gambling: analyses of a clinical sample

Introduction Despite growing interest in internet addiction (IA), there is still no consensus in perceiving it as a distinct clinical disorder. Proposals of including IA in the DSM-V and possibly also ICD-11 have strengthened the notion that it has a lot of features justifying its nosological classification as a primary disorder. Objectives Besides a large number of epidemiological surveys, clinical examinations investigating psychopathological symptoms and co-morbidity in a standardized way are still missing. Hence, clinical data is very important in the research on IA as it might support data gained in representative studies. Aims The purpose of the study was to provide further clinical characterisation of IA. Methods A clinical sample from a specialized outpatient clinic in Germany was examined by clinical ratings (GAF; psychiatric co-morbidity) and questionnaires (SCL-90R, PHQ). Two clinical groups were included: Patients meeting criteria for IA (n=80) and patients with pathological gambling (n=80). For further statistical comparison, healthy controls (n=80) were recruited too. Results Both clinical groups scored significantly higher in SCL-90R and PHQ than the controls. Patients with IA showed similar profiles in SCL-90R as pathological gamblers with no significant differences in any sub-scale. Also, scores of GAF were similar. Expert ratings on co-morbidity indicate that depression is associated with both disorders. In IA also social phobia is common. Conclusions Patients with IA and pathological gamblers display comparable levels of psychopathological symptoms and impairment. IA seems to cause significant psychopathological strain similar to pathological gambling that is accepted as a clinical disorder since the 1980ies.

Are Children With “Pure” Generalized Anxiety Disorder Impaired? A Comparison With Comorbid and Healthy Children

Despite the approach of the Diagnostic and Statistical Manual of Mental Disorders (5th ed.), generalized anxiety disorder (GAD) of childhood continues to face questions as to whether it should be considered a distinct clinical disorder. A potentially critical issue embedded in this debate involves the role of functional impairment which has yet to be demonstrated in children with “pure” GAD. Participants included 41 children between the ages of 6 and 11 years who met diagnostic criteria for primary GAD. Children with pure GAD (n = 17) were compared to children with comorbid GAD (n = 24) as well as a healthy control group (n = 20) in terms of clinician-rated severity and impairment and child-reported adaptive functioning across four domains. On average, children with pure GAD were more likely to be male and younger than children with comorbid GAD. Based on traditional significance testing, global impairment was greater in the comorbid compared to pure GAD group, although functioning in both groups was in the “variable” range. Both clinical groups reported less adaptive family relationships than controls, whereas only the comorbid group reported lower levels of home-based functioning. Equivalence testing nonetheless indicated a lack of comparability (i.e., nonequivalence) across the three groups for each of the domains examined. Findings indicate children with pure GAD to be functionally impaired compared to their healthy peers, though not to the same extent as children with secondary psychiatric diagnoses. Child functioning within the family domain specifically may be among the most vulnerable when GAD is present. Results support consideration of childhood GAD as a distinct clinical disorder.

The cancer anorexia-cachexia syndrome: myth or reality?

Controversy exists as what constitutes the cancer anorexia-cachexia syndrome (CACS), and whether it truly is a distinct clinical disorder. In this study, we aimed to: (1) assess if CACS is a distinct clinical disorder, (2) identify the symptoms characteristic of CACS, (3) evaluate CACS impact on patient outcomes (symptom burden and survival time from referral). Consecutive patients referred to palliative medicine were assessed by 38-symptom questionnaire. Demographics, Eastern Cooperative Oncology Group (ECOG), disease and extent, and survival were recorded. CACS, defined as anorexia plus weight loss (>10% of pre-illness weight). For analysis, patients were divided into four groups: (1) group CACS; (2) group A (only anorexia, NO >10% pre-illness weight loss); (3) group WL (weight loss >10% pre-illness weight only but NO anorexia); and (4) group N (NO weight loss >10% pre-illness weight and NO anorexia). Symptoms present in > or =5%, and patients with complete data were analyzed. Four hundred eighty-four patients had complete data, metastatic cancer, and 26 symptoms present in > or =5%. Groups had significantly different ECOG, symptom burden, and survival. Significantly different symptom prevalence between groups: dry mouth,*early satiety,*constipation,*nausea,*taste changes,*vomiting,*dysphagia,*fatigue,*weak,*lack of energy, insomnia, dyspnea, depression, hoarseness, and anxiety. The nine symptoms with asterisk were CACS specific. Symptom Burden: CACS independently predicted greatest burden. Survival: Group N had significantly longer survival. CACS appeared to be a distinct disorder with unique clinical characteristics in our advanced cancer population. Nine other symptoms constituted CACS. CACS independently predicted higher symptom burden. CACS absence predicted longer survival. More evidence is needed to better characterize this syndrome and generate a valid CACS consensus. A comprehensive validated CACS assessment instrument is required.

Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder.

We studied 47 subjects belonging to 13 unrelated families with a history of mild haemorrhagic diathesis and chronic thrombocytopenia. 36 patients presented some degree of thrombocytopenia: 7/36 (19%) had slight thrombocytopenia (100-150 x 10(9)/L); 26/36 (72%) had mild thrombocytopenia (50-100 x 10(9)/L) and 3/36 (8%) had severe thrombocytopenia (< 50 x 10(9)/L). No correlation was observed between platelet count and the degree of haemorrhagic diathesis, which was mild in the majority of patients. Transmission was autosomal dominant. Platelet anisocytosis, increased percentage of large platelets and absence of leukocyte inclusions were observed in 26/30 (87%) of the examined blood smears. The ultrastructural appearance of platelets was normal. Megakaryocytes appeared normal in number in 10/10 patients, but showed asynchronous nuclear-cytoplasm maturation and mainly nonlobulated nuclei. Platelet aggregation was studied in 26 patients and either increased or decreased curves were variably observed in response to different aggregating agents. Platelet-associated IgG (PAIgG) was increased in 18/31 (58%) patients, while serum autoantibodies against platelet glycoproteins Ib/IX or IIb/IIIa were demonstrable in only 1 case. An increased expression of platelet surface glycoproteins Ib and IIb/IIIa, as studied by murine monoclonal antibodies binding in 17 cases, was observed. Platelet survival performed by 111Inoxine-labelled autologous platelets was normal in the 3 studied patients. Congenital macrothrombocytopenia confirms to be a distinct clinical disorder for which the name of "chronic isolated hereditary macrothrombocytopenia" is proposed.

Relevance of Segmental Colitis with Diverticulosis (SCAD) to Other Forms of Inflammatory Bowel Disease

A well localized inflammatory process involving only the sigmoid colonic segment associated with diverticulosis (SCAD), has become increasingly recognized as a distinct clinical and pathological disorder, usually described in older adults, often with rectal bleeding. Although some resolve spontaneously, most patients appear to respond to treatment only with 5-aminosalicylate. Endoscopic evaluation reveals a nonspecific inflammatory process localized in the sigmoid colon that usually completely resolves with histologically normal colonic mucosa. Recurrent symptoms with evidence of recurrent segmental colitis may occur, but most have an entirely benign clinical course. Further definition of the underlying molecular signalling that occurs in this apparently distinctive disorder may be critically important to understand the elements of a colonic inflammatory process that can completely and spontaneously resolve.

Orofacial granulomatosis – a 20‐year review

Orofacial granulomatosis (OFG) is the presence of persistent enlargement of the soft tissues of the oral and maxillofacial region, characterized by non-caseating granulomatous inflammation in the absence of diagnosable systemic Crohn's disease (CD) or sarcoidosis. Over 20 years have passed since OFG was first described and an extensive review of the literature reveals that there is no consensus whether OFG is a distinct clinical disorder or an initial presentation of CD or sarcoidosis. Furthermore, the precise cause of OFG is still unknown although several theories have been suggested including infection, genetic predisposition and allergy. The clinical outcome of OFG patients continues to be unpredictable. Current therapies remain unsatisfactory. Regular clinical review is indicated to identify the development of gastrointestinal or systemic involvement. The aim of this review was to analyse the developments in our understanding of the aetiology, pathogenesis and treatment protocols, with particular emphasis on management and outcomes of OFG since this entity was first described in 1985.

Segmental colitis associated with diverticulosis syndrome

An inflammatory process that involves the sigmoid colonic segment associated with diverticular disease (SCAD) appears to be a distinct clinical and pathological disorder. It has been described in older adults, often presenting with rectal bleeding. Most of the patients seem to respond to treatment only with a 5-aminosalicylate, but some spontaneously resolve with no treatment. Endoscopic evaluation usually shows a non-specific inflammatory process localized in the sigmoid colon alone that may resolve completely with histologically normal colonic mucosa. Repeated symptomatic events with discrete episodes of segmental colitis may occur, but most patients have an entirely benign clinical course. Definition of the underlying molecular events that occur with SCAD may be critically important in understanding the critical elements present in a colonic inflammatory process that can completely resolve without pharmacological or biological treatment.

A woman with a dangling digit

Ainhum (dactylolysis spontanea) is a distinct clinical and radiological disorder of dark-skinned people characterized by a progressive development of a constricting band encircling the toe which usually results in spontaneous amputation. Ainhum mainly occurs in African natives, but in times of global migration and tourism, Ainhum is likely to be more often encountered outside Africa. Even though the clinical presentation can mimic more common entities such as arthritis and trauma, the correct diagnosis and treatment is easy if one knows this unusual entity.

Polyoma BK virus and haemorrhagic cystitis in haematopoietic stem cell transplantation: a changing paradigm

Haemorrhagic cystitis (HC) is a distinct clinical disorder of multiple aetiologies. It is characterized by painful haematuria due to haemorrhagic inflammation of the urinary bladder mucosa. In allogeneic haematopoietic stem cell transplantation (HSCT), HC occurring before engraftment is mostly transient and self-limiting, whereas that after engraftment is severe and sometimes life-threatening. Pre- and post-engraftment HC represent distinct disorders with different aetiologies and treatment implications. Recent data suggest that reactivation of the polyoma BK virus (BKV) plays a pivotal role in post-engraftment HC. Urotoxicity of the conditioning regimen and alloimmune reaction accompanying graft-versus-host disease (GVHD) upon engraftment are also important pathogenetic factors. Based on data from BKV studies, we propose that HC may be divided into three phases. In the first phase, the conditioning regimen damages uroepithelial cells, providing a milieu for BKV replication. In the second phase, unchecked uroepithelial BKV replication leads to BK viruria. In the last phase after engraftment, alloimmunity against BKV-infected uroepithelial cells leads to HC. The quinolone antibiotics suppress BKV replication in vivo and in vitro, suggesting that their prophylactic use may prevent the occurrence of HC.

Clinical Update: Fibromyalgia Syndrome: Impairment and Disability Issues

Abstract Fibromyalgia is a perplexing, controversial syndrome with many unanswered questions regarding both etiology and manifestations and impairment and disability issues. This article reviews controversies attending this diagnosis, examines the debates concern etiology, explains why this diagnosis is unratable by the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Fifth Edition, and explore issues of disability. Health care professionals debate whether the diagnostic criteria actually define a distinct clinical disorder, but the American College of Rheumatology published, for research purposes, classification criteria for Fibromyalgia Syndrome (FMS) that since have been widely used: FMS has been defined as a complex, chronic condition characterized by widespread noninflammatory musculoskeletal pain, severe fatigue, and sleep disturbances. Many health care professionals maintain that FMS is best understood from a biopyschosocial perspective because of the absence of visible clinical signs and inability to confirm the condition by laboratory tests. FMS may affect between 3 and 6 million people in the United States, with a 10:1 predominance in women, most between 35 and 60 years of age. Section 18.3b, When This Chapter Should Not Be Used to Rate Pain-Related Impairment, advises that “the pain of individuals with ambiguous or controversial pain syndromes is considered unratable” and provides three discriminatory questions.

Is premenstrual dysphoric disorder a distinct clinical entity?

Does the evidence now available support the concept of premenstrual dysphoric disorder (PMDD) as a distinct clinical disorder such that the relative safety and efficacy of potential treatment can be evaluated? In a roundtable discussion of this question, a wealth of information was reviewed by a panel of experts. The key characteristics of PMDD, with clear onset and offset of symptoms closely linked to the menstrual cycle and the prominence of symptoms of anger, irritability, and internal tension, were contrasted with those of known mood and anxiety disorders. PMDD displays a distinct clinical picture that, in the absence of treatment, is remarkably stable from cycle to cycle and over time. Effective treatment of PMDD can be accomplished with serotinergic agents. At least 60% of patients respond to selective serotonin reuptake inhibitors (SSRIs). In comparison with other disorders, PMDD symptoms respond to low doses of SSRIs and to intermittent dosing. Normal functioning of the hypothalamic-pituitary-adrenal (HPA) axis, biologic characteristics generally related to the serotonin system, and a genetic component unrelated to major depression are further features of PMDD that separate it from other affective (mood) disorders. Based on this evidence, the consensus of the group was that PMDD is a distinct clinical entity. Potential treatments for this disorder can now be evaluated on this basis to meet the clear need for effective therapy.

Historical Perspective: Surgery for Chronic Thromboembolic Disease

Obstruction of major pulmonary vessels with organized thromboemboli is a rare sequelae of acute pulmonary embolic disease. Depending on the extent and duration of vascular occlusion, patients experiencing this unusual disorder may develop significant pulmonary hypertension and cor pulmonale. If left untreated, the ultimate clinical outcome is right heart failure and death. Over the past several decades, the description of this clinical entity has evolved from an autopsy curiosity to a recognized cause of chronic pulmonary hypertension. Also, during this same time period, surgical capabilities have greatly advanced, providing these patients a potentially life-saving remedy for this debilitating form of pulmonary vascular disease. This article provides a historical perspective for our current understanding of major vessel chronic thromboembolic pulmonary hypertension as a distinct clinical disorder. It also chronicles the developments in surgical techniques that have made thromboendarterectomy of the pulmonary arterial bed a reality.

Sorsby's Fundus Dystrophy

Ever since Sorsby described his pseudoinflammatory dystrophy in five families, its characteristics have been unclear. The findings in ten affected members of a seven-generation pedigree are discussed and the literature is reviewed. Patients with this dominantly inherited fundus dystrophy lose central vision between the second and fourth decade of life. Three variations in the fundus appearances were distinguished: in the first and most common, white to yellow fundus spots (which are not drusen) accompany a disciform macular degeneration; in the second, the fundus spots are absent; in the third, the yellow deposits are associated with atrophic macular degeneration. Atrophy of the retina, pigment epithelium, and choroid then slowly progresses toward the periphery. Treatment does not halt the progress of the disease. Although variations in this dystrophy may be examples of genetic heterogeneity, Sorsby's fundus dystrophy is a distinct clinical disorder.

Antigenic phenotype of splenic hairy cells

Hairy cell leukemia, a distinct clinical and morphologic lymphoproliferative disorder, is characterized by the proliferation of mononuclear cells of uncertain derivation. Attempts to identify the cell of origin have used studies either of functional capabilities or of membrane/cytoplasmic antigens. Only a few cases have been studied via monoclonal antibodies. Frozen sections of splenic tissue involved with hairy cell leukemia were studied with a variety of monoclonal antibodies having specificity for differentiation antigens using the avidin-biotinylated peroxidase complex technique. Conventional direct and indirect immunohistochemical study was used for immunoglobulin heavy and light chains. In all but one case, the neoplastic cells expressed monoclonal immunoglobulin. Although T cells were identified in persisting periarteriolar sheaths and occasionally admixed with red blood cells in pseudosinuses, phenotypic expression of intrathymic or peripheral T cell antigens by the proliferating neoplastic cells was not observed. Conversely, expression of B1 and HLA-Dr antigens by splenic hairy cells was documented in all 10 cases. Hairy cell leukemia cells did not express either monocyte antigens (M1 and MO2) or the antigens expressed by early (J5) and intermediate (B2) B cells or plasmacytoid lymphocytes and plasma cells (T10). These immunohistochemical results with monoclonal antibodies provide further evidence that hairy cell leukemia is characterized by a combination of antigens peculiar to mature B lymphocytes.

PAROXYSMAL TACHYCARDIA IN AN INFANT WITH WOLFF-PARKINSON-WHITE SYNDROME

SINCE 1925¹paroxysmal tachycardia in infants has been reported infrequently and sporadically. In 1941 Hubbard²published the classic study of paroxysmal tachycardia in infants and emphasized the distinct clinical syndrome produced by this disorder. He further emphasized that failure to determine the heart rate accurately may result in a faulty diagnosis of pneumonia or of congenital idiopathic hypertrophy of the heart, and that the underlying disorder of heart rhythm and rate may go unrecognized and untreated. The infant in this case was at first believed to have pneumonia. The importance of the rapid heart rate went unrecognized, as the clinical syndrome was not suspected in so young a child. For this reason, it was deemed wise to report this case and to reemphasize a distinct clinical disorder observed in young infants, which usually responds promptly to proper therapy. Until 1946, no cases of the Wolff-Parkinson-White syndrome had been