Additional Organ Involvement Research Articles

Syndromic ichthyoses.

Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic forms. To date, mutations in more than 30 genes are known to result in various types of syndromic ichthyoses, which, in addition to mostly generalised scaling and hyperkeratosis of the skin, also show additional organ involvement. The syndromic ichthyoses are generally very rare and are classified based on the mode of inheritance, and can be further subdivided according to the predominant symptoms. In our review we provide a concise overview of the most prevalent syndromic forms of ichthyosis within each subgroup. We emphasize the importance of the clinical assessment of complex syndromes even in the era of genetic testing as a first-tier diagnostic and specifically the need to actively assess potential organ involvement in patients with ichthyosis, thereby enabling efficient diagnostic and therapeutic approaches and timely access to specialized centers for rare disorders of cornifications. As part of the Freiburg Center for Rare Diseases a Center for Cornification Disorders was recently established with collaboration of the Institute of Human Genetics and the Department of Dermatology. An early diagnosis of syndromes will be of direct benefit to the patient regarding interventional and therapeutic measures e. g. in syndromes with cardiac or metabolic involvement and allows informed reproductive options and access to prenatal and preimplantation genetic diagnosis in the family.

Pediatric Autoimmune Pancreatitis: A Single-Center Retrospective Case Series.

Autoimmune pancreatitis (AIP) is a rare form of a chronic, immune-mediated, inflammatory pancreatic condition. There is limited data regarding presentation and outcome in the pediatric population. We described a single-center case series of 4 pediatric patients with AIP to better understand the presentation, symptoms, and outcomes of this rare condition. Data collected included demographics, serology markers, symptoms at presentation, imaging, additional organ involvement, histology, treatment methods, and outcomes. The diagnosis of AIP was made by a combination of serology, pancreatic imaging, histology, extrapancreatic manifestations, and steroid response. All patients were diagnosed with type 2 AIP. Abdominal pain, emesis, and obstructive jaundice were the most common symptoms at presentation. Autoimmune markers were negative. Cross-sectional abdominal imaging showed diffuse/focal pancreatic gland enlargement and common bile duct stricture universally and main pancreatic duct irregularity in half of the patients. Biopsies showed lymphoplasmacytic infiltration with associated pancreatic fibrosis and atrophy. Treatment with an 8-week tapering course of prednisone showed prompt response with resolution of symptoms and normalization of laboratory test results. Our case series shows that AIP in children is a rare entity with a distinct clinical presentation, classical radiographic and histological features with good long-term prognosis.

Short-term Accrual 2019 European League Against Rheumatism/American College of Rheumatology Domains and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage in Lupus Patients With and Without Nephritis at Disease Onset.

To determine in a historical inception cohort the impact of lupus nephritis at disease onset in short-term accrual 2019 European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) domains. The possible association with treatment and damage was also investigated. One hundred thirty-three consecutive adult systemic lupus erythematosus patients according to the 2019 EULAR/ACR criteria were divided according to the presence (RENAL-lupus) or absence of renal involvement (NONRENAL-lupus) at disease onset. The 2019 EULAR/ACR score and Systemic Lupus International Collaborating Clinics/ACR (SDI) were longitudinally evaluated over 3 years. RENAL-lupus (n = 49 [36.8%]) and NONRENAL-lupus (n = 84 [63.2%]) were similar regarding age ( p = 0.704), female sex ( p = 0.313), and black race ( p = 0.506). At study entry, RENAL-lupus had higher 2019 EULAR/ACR total domains (30 [12-42] vs. 22 [10-36], p < 0.001) and used more often glucocorticoid ( p < 0.001), mycophenolate mofetil ( p = 0.007), and cyclophosphamide ( p = 0.001). After 3 years, a stable number of domain scores was observed for the RENAL-lupus (30 [12-42] vs. 30 [12-42], p = 0.125), whereas an increase was observed for the NONRENAL-lupus (22 [10-36] vs. 23 [10-40], p < 0.001) compared with baseline. Accordingly, RENAL-lupus patients had a lower frequency of additional domains (3/49 [6.1%] vs. 37/84 [44.0%], p < 0.0001). New kidney involvement occurred in 15 (44.1%) of 34 patients of the NONRENAL-lupus. Both groups evolved with a comparable increase in frequency of patients with damage (SDI ≥1) at the end of the study (23/49 [46.9%] vs. 34/89 [40.54%], p = 0.585) with a similar median of SDI (1 [0-4] vs. 0 [0-2], p = 0.132). The distinct pattern of accrual 2019 EULAR/ACR domains in patients with and without nephritis at disease onset suggests that close surveillance for additional organ involvement, including kidney, is mandatory in NONRENAL lupus in the first 3 years of disease. The unexpected comparable early damage in both groups despite milder disease and less intense immunosuppression in NONRENAL lupus reinforces the need for new and tailored therapies for these patients.

Autoantibody profile in sarcoidosis, analysis from the GRADS sarcoidosis cohort.

BackgroundSarcoidosis, a multi-systemic granulomatous disease, is a predominantly T-cell disease but evidence for a role for humoral immunity in disease pathogenesis is growing. Utilizing samples from the Genomic Research in Alpha-1 anti-trypsin Deficiency and Sarcoidosis (GRADS) study, we examined the prevalence of autoantibodies in sarcoidosis patients with pulmonary-only and extra-pulmonary organ involvement compared to normal controls.Study design and methodsWe analyzed serum samples from sarcoidosis patients who participated in the GRADS study utilizing an autoantigen microarray platform for both IgM and IgG antibodies. The cohort included sarcoidosis patients with pulmonary-only disease (POS, n = 106), sarcoidosis patients with extra-pulmonary disease (EPS, n = 120) and a normal control cohort (NC, n = 101). Organ involvement was assessed following a standardized format across all GRADS participating centers.ResultsSarcoidosis patients overall had increased levels of IgM and IgG autoantibodies compared to normal controls. In addition, several autoantibodies were elevated in the POS and EPS cohorts compared to the NC cohort. Differences in autoantibody levels were also noted between the POS and the EPS cohorts. When comparing organ involvement with sarcoidosis, bone, spleen and ear, nose and throat involvement had higher IgM expression than other organs.ConclusionSarcoidosis patients have elevated IgM and IgG autoantibody levels compared to normal controls. In addition, individuals with pulmonary as well as additional organ involvement had higher IgM expression. Further research is needed focusing on specific organ-autoantibody pairs and role of autoantibodies in disease pathogenesis.

Evaluation of clinical and laboratory characteristics of patients with cutaneous sarcoidosis: A single-center retrospective cohort study.

BackgroundCutaneous sarcoidosis is a relatively rare disease whose clinical manifestations include red-brown macules, plaques, papules and subcutaneous nodules. The skin changes may also be restricted to pre-existing scars. Cutaneous sarcoidosis can be associated with systemic organ involvement.ObjectivesAim of this retrospective study was to longitudinally investigate clinical and laboratory findings in patients with cutaneous sarcoidosis.MethodsPatients (>18 years) with histologically confirmed cutaneous sarcoidosis between January 2014 and December 2020 were included. Patient demographics, clinical features, laboratory and radiological findings, management, clinical outcomes and co-morbidities associated with cutaneous sarcoidosis were analyzed.ResultsThirty-seven patients with cutaneous sarcoidosis were identified, of whom 57% were female. The most common clinical phenotype of cutaneous sarcoidosis was papular sarcoidosis (n = 16), while plaques and nodules were present in 9 patients. In contrast, subcutaneous (n = 1) and scar-associated sarcoidosis (n = 1) were rare. Of patients with systemic disease, the cutaneous disease followed, preceded, and coincided with the development of systemic sarcoidosis in 2, 9, and 12 patients, respectively. Levels of soluble interleukin (IL)-2 receptor, angiotensin converting enzyme (ACE), and C-reactive protein (CRP) were elevated, in 76%, 21%, and 50% of the tested patients respectively and predicted systemic involvement. Hypercalcemia was present in 6% of patients. Female sex and younger age (<54 years) were significantly associated with systemic manifestations.ConlcusionsCutaneous sarcoidosis was frequently associated with additional systemic involvement, particularly when present in young females. 24 % of patients with cutaneous sarcoidosis developed additional organ involvement during follow-up.

S2195 A Masquerade Ball at the Descending Colon

Introduction: Abdominal tuberculosis (TB) accounts for up to 5% of TB cases worldwide and the proximal colon is the most affected site. It can involve any part of the GI tract, however, TB in the descending colon is rarely reported. Most cases present with non-specific symptoms and without concomitant pulmonary TB making the diagnosis challenging and delayed. Case Description/Methods: An 80-year-old man was found with new-onset microcytic anemia on routine labs. His PCP ordered a FIT test which came back positive. He reported being asymptomatic and denied GI bleeding. Diagnostic colonoscopy was performed which revealed a tumorous lesion in the descending colon occupying over 50% of the lumen. Preliminary endoscopic impression was concerning for malignancy and multiple biopsies were obtained. Pathology report revealed an acute focal colitis with an aphthous ulcer and few non-necrotizing granulomas. Given incongruity in pathology findings, a sigmoidoscopy was performed, and biopsy findings again revealed granulomatous inflammation as well as 2 small acid-fast positive structures. The patient underwent QuantiFERON testing which was positive. He reported a childhood exposure to mycobacterium tuberculosis but did not recall receiving treatment. Chest CT scan did not reveal any significant pulmonary findings and Abdominal CT scan did not show additional organ involvement. A definite diagnosis of M. tuberculosis could not be ascertained as biopsied samples were not cultured. Thus, another colonoscopy was performed with emphasis on tuberculosis microscopy and culture. Empiric treatment with RIPE and Azithromycin was started to cover tuberculosis and non-tuberculosis mycobacterium. M. tuberculosis was diagnosed by DNA probe and azithromycin was discontinued. Discussion: Abdominal TB possesses a diagnostic challenge due to its non-specific clinical presentation. When intestinal involvement is present, abdominal pain, weight loss, and changes in bowel habits are the most common manifestations. Endoscopically, it can mimic Crohn’s Disease given its ulcerative nature as well as malignancy due to a hyperplastic reaction occasioning an inflammatory mass in the lumen. In the intestines it frequently leads to stricture formation resulting in bowel obstruction. Abdominal TB is generally responsive to standard anti-tuberculous drugs and has shown significant resolution of symptoms in cases of tuberculous strictures. High clinical suspicion is necessary to ensure early diagnosis and treatment leading to favorable outcomes.

MICROSCOPIC POLYANGIITIS WITH ISOLATED PULMONARY SYMPTOMS

MICROSCOPIC POLYANGIITIS WITH ISOLATED PULMONARY SYMPTOMS

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms. Skin abnormalities are described in about 20% of the congenital disorders of glycosylation (CDG). Among those, some rare CDG forms constitute a special group among the syndromic ichthyoses and can initially misdirect the diagnosis towards non-syndromic genodermatosis. DOLK-CDG is such a rare subtype, resulting from a defect in dolichol kinase, in which the congenital skin phenotype (often ichthyosis) is later associated with variable extracutaneous features such as dilatative cardiomyopathy, epilepsy, microcephaly, visual impairment, and hypoglycemia and may lead to a fatal course. We report two neonatal cases of lethal ichthyosis from the same family, with distal digital constrictions and a progressive course leading to multi-organ failure and death. Postmortem trio whole-exome sequencing revealed the compound heterozygous variants NM_014908.3: c.1342G>A, p.(Gly448Arg) and NM_014908.3: c.1558A>G, p.(Thr520Ala) in the DOLK gene in the first affected child, which were confirmed in the affected sibling. Reduced staining with anti-α-Dystroglycan antibody was observed in frozen heart tissue of the second child as an expression of reduced O-mannosylation due to the dolichol kinase deficiency. In addition to the detailed dermatopathological changes, both cases presented hepatic and extrahepatic hemosiderosis on histological examination. Our patients represent an early and fatal form of DOLK-CDG with a striking presentation at birth resembling severe collodion baby. Both cases emphasize the phenotypic variability of glycosylation disorders and the importance to broaden the differential diagnosis of ichthyosis and to actively search for organ involvement in neonates with ichthyosis.

Belantamab Mafadotin in Patients with Relapsed/Refractory AL Amyloidosis with Myeloma

Belantamab Mafadotin in Patients with Relapsed/Refractory AL Amyloidosis with Myeloma

Abstracts and Case Studies for the College of American Pathologists 2021 (CAP21) Annual Meeting

Abstracts and Case Studies for the College of American Pathologists 2021 (CAP21) Annual Meeting

Anterior Pituitary Failure in Patients with Granulomatous Inflammation

Abstract Introduction: Langerhan cell histiocytosis (LCH) is a rare cause of eosinophilic granulomatous inflammation that can affect multiple organ systems, mainly diagnosed in children. Hypothalamic-pituitary axis involvement is well established and is the characteristic intracranial manifestation of LCH. Patients can present with several presentations including anterior pituitary axis failure; however, the most common presentation is Diabetes Insipidus (DI). Here, we present a rare case of isolated pituitary LHC in male adult. Clinical Case: 47 years old gentleman presented with 4 week history of insidious headaches associated with persistent nausea. He also noticed drooping of his left eyelid and presented to hospital with complete ptosis. His CT head did not show any abnormalities. However finding on his MRI brain were consistent with a central skull base inflammatory process centred on the pituitary, extending cranially to the chiasm and third ventricular floor as well as laterally to the cavernous sinuses. His anterior pituitary profile was as follow: LH - 0.7 U/L (1.2-8.6 U/L), FSH - 4.2 U/L (1.3-19.3 U/L), Testosterone - &amp;lt;0.3 nmol/L (6.1 - 27.1 nmol/L), IGF-1 - 9.8 (8.8-31), Prolactin - 197 mIU/L (56-278 mIU/L), TSH - 1.18 mU/L (0.38 - 5.33 mU/L), FT4 - 4.4 pmol/L (8.4 - 19.1 pmol/L). He underwent a Short Synacthen test with a baseline cortisol of 19 nmol/L, rising to 100 nmol/L at 30 minutes and 130 nmol/l at 60 minutes. Following initiation of high dose steroid replacement (Prednisolone 15 mg daily), Levothyroxine and Testosterone, his Prednisolone was slowly weaned to 4 mg once a day in line with an improvement in his ptosis &amp; left temporal hemianopia. His pituitary biopsy showed infiltrates of abundant histiocytes and inflammatory cells (lymphocytes). Histiocytes were organised in a granulomatous fashion with multinucleated giant cells and eosinophils (CD 68 staining positive). Langerin stain (positive) / S100 stain (some) / CD1a (few) - cells positive, confirming a diagnosis of LCH. Additional CT (chest/abdomen/pelvis) and PET imaging confirmed no additional organ involvement. Conclusion: LCH is a rare cause of anterior pituitary failure. Limited information regarding treatment for isolated pituitary LCH is available. This case suggests that a conservative approach to successful treatment with steroids can be considered.

Rituximab treatment for isolated IgG4-related hypophysitis in a teenage female.

SummaryIgG4-related hypophysitis is an important diagnostic consideration in patients with a pituitary mass or pituitary dysfunction and can initially present with headaches, visual field deficits and/or endocrine dysfunction. Isolated IgG4-related pituitary disease is rare, with most cases of IgG4-related disease involving additional organ systems. We report the case of a teenage female patient with isolated IgG4-related hypophysitis, diagnosed after initially presenting with headaches. Our patient had no presenting endocrinologic abnormalities. She was treated with surgical resection, prednisolone and rituximab with no further progression of disease and sustained normal endocrine function. This case, the youngest described patient with isolated IgG4-related hypophysitis and uniquely lacking endocrinologic abnormalities, adds to the limited reports of isolated pituitary disease. The use of rituximab for isolated pituitary disease has never been described. While IgG4-related hypophysitis has been increasingly recognized, substantial evidence concerning the appropriate treatment and follow-up of these patients is largely lacking.Learning points:IgG4-related hypophysitis most often occurs in the setting of additional organ involvement but can be an isolated finding. This diagnosis should therefore be considered in a patient presenting with pituitary abnormalities.Most patients with IgG4-related hypophysitis will have abnormal pituitary function, but normal functioning does not exclude this diagnosis.Corticosteroids have been the mainstay of therapy for IgG4-related disease, with other immunosuppressive regimens being reserved for refractory cases. Further research is needed to understand the effectiveness of corticosteroid-sparing regimens and whether there is utility in using these agents as first-line therapies.

Clinical characteristics of laryngeal versus nonlaryngeal amyloidosis.

Amyloidosis represents a heterogeneous group of disorders marked by abnormal protein formation and deposition. Laryngeal amyloidosis is rare and classically thought to remain isolated with little risk of systemic involvement or associated malignancy. This study sought to further characterize differences in clinical characteristics between patients with laryngeal and nonlaryngeal amyloidosis. Retrospective case-control study. The Stanford Translational Research Integrated Database Environment was searched to identify patients with biopsy-confirmed laryngeal amyloidosis and patients with amyloidosis without laryngeal involvement on endoscopy. Mann-Whitney U and χ2 tests were used for statistical analysis. Of 865 patients treated for amyloidosis between 1996 and 2016, 22 (2.5%) patients with biopsy-proven laryngeal amyloidosis were identified. An additional 22 patients with amyloidosis of a different organ and negative laryngoscopy-and therefore without laryngeal amyloidosis-were identified as controls. Compared to these controls with nonlaryngeal amyloidosis, patients with laryngeal amyloidosis were younger (mean age 52.8 years vs. 68.4 years, P < .0006), and 18% had additional organ involvement. Immunoglobulin light-chain amyloidosis was the most common subtype in both groups of patients. Eighty-six percent of patients with laryngeal amyloidosis required surgical excision, and of these patients, over 30% required multiple excisions. There is a significant rate (18%) of multiorgan involvement in patients with laryngeal amyloidosis, which contradicts conventional concepts that this is an isolated disorder. This finding could have a significant impact on the evaluation and management of patients with laryngeal amyloidosis. 3b. Laryngoscope, 128:670-674, 2018.

Gastrointestinal Amyloidosis: Review of the Literature.

Gastrointestinal amyloidosis (GIA), a protein deposition disorder, represents a complex common pathway that encompasses multiple etiologies and presentations. It represents a significant diagnostic and treatment challenge. The disease results from the deposition of insoluble extracellular protein fragments that have been rendered resistant to digestion. GIA can be acquired or genetic, and most commonly results from chronic inflammatory disorders (AA amyloidosis), hematologic malignancy (AL amyloidosis), and end-stage renal disease (Beta-2 amyloidosis). The deposition of these abnormal proteins interferes with gastrointestinal tract (GI) organ structure and function, most notably in the liver and small bowel. Presentation from GI involvement includes cirrhotic sequelae, abdominal pain, malabsorption, and GI bleeding. Diagnosis hinges on pathologic examination of affected tissue, with classic green birefringence under polarized light. Abdominal fat pad and rectal mucosal biopsy have been described as sites of higher sensitivity for diagnosis. Serum amyloid P scintigraphy is near 90% sensitive for diagnosis of AA amyloidosis. Patients should be considered for further evaluation to rule out additional organ involvement, notably cardiac and renal. Treatment hinges on an adequate suppression of the predisposing inflammatory disorder, or malignancy, followed by supportive therapy. Prognosis varies depending on the etiology of the disease, with the AL subtype showing worse outcomes, as well as those with hepatic involvement.

Dosage-dependent copy number gains in E2f1 and E2f3 drive hepatocellular carcinoma.

Disruption of the retinoblastoma (RB) tumor suppressor pathway, either through genetic mutation of upstream regulatory components or mutation of RB1 itself, is believed to be a required event in cancer. However, genetic alterations in the RB-regulated E2F family of transcription factors are infrequent, casting doubt on a direct role for E2Fs in driving cancer. In this work, a mutation analysis of human cancer revealed subtle but impactful copy number gains in E2F1 and E2F3 in hepatocellular carcinoma (HCC). Using a series of loss- and gain-of-function alleles to dial E2F transcriptional output, we have shown that copy number gains in E2f1 or E2f3b resulted in dosage-dependent spontaneous HCC in mice without the involvement of additional organs. Conversely, germ-line loss of E2f1 or E2f3b, but not E2f3a, protected mice against HCC. Combinatorial mapping of chromatin occupancy and transcriptome profiling identified an E2F1- and E2F3B-driven transcriptional program that was associated with development and progression of HCC. These findings demonstrate a direct and cell-autonomous role for E2F activators in human cancer.

Abstract IA16: Breaking the balance between E2F activators and atypical repressors: Consequences to development and cancer

Abstract E2F transcriptional activators and repressors regulate cell cycle-dependent gene expression. Using a series of loss- and gain-of-function alleles to dial E2F transcriptional output we show that mouse development is relatively insensitive to alterations in E2F levels and composition. However, modest increases in E2F output resulted in spontaneous hepatocellular carcinoma (HCC) without additional organ involvement, whereas decreases protected against HCC. Cell type- and temporal-specific gene ablation strategies defined a cell-autonomous oncogenic role for E2F1/3B and a tumor suppressor role for E2F7/8 in hepatocytes. Genetic, biochemical and profiling studies suggest a mechanism involving E2F1/3B-mediated activation and E2F7/8-mediated repression of a common set of targets during early post-natal liver development, which are associated with HCC progression. Thus, while overall development is sufficiently robust, the liver is uniquely sensitive to perturbations in E2Fs. In summary, we identified the critical network components in immature hepatocytes that control E2F output and foster a cancer-free life span. Citation Format: Gustavo W. Leone. Breaking the balance between E2F activators and atypical repressors: Consequences to development and cancer. [abstract]. In: Proceedings of the AACR Precision Medicine Series: Cancer Cell Cycle - Tumor Progression and Therapeutic Response; Feb 28-Mar 2, 2016; Orlando, FL. Philadelphia (PA): AACR; Mol Cancer Res 2016;14(11_Suppl):Abstract nr IA16.

IgG4-related disease simulating Hodgkin lymphoma in a child

Immunoglobulin (Ig) G4-related disease is a recently described syndrome characterized by mass forming lymphoplasmacytic tissue infiltration and elevated serum IgG4 concentrations usually affecting middle-aged or older individuals. Lymphadenopathy is frequently observed and is sometimes the first or only manifestation of the disease. We report a case of IgG4-related disease mimicking Hodgkin lymphoma in a 13-year-old girl. The patient presented with progressive unilateral cervical lymphadenopathy of several months duration. Biopsy showed follicular hyperplasia with progressive transformation of germinal centers. Interfollicular areas were expanded by small lymphocytes, histiocytes, eosinophils and fibrosis with occasional CD30 positive cells initially concerning for interfollicular Hodgkin lymphoma. Immunohistochemical analysis revealed an intrafollicular plasmacytosis with an IgG4-positive/IgG-positive plasma cell ratio of 50% supporting a diagnosis of IgG4-related lymphadenopathy, progressively transformed germinal centers type. Laboratory studies were supportive with elevated serum IgG4 (178mg/dL) and IgE (30.40kU/L) levels along with an elevated serum IgG4/IgG ratio (0.16). Very few cases of IgG4-related disease have been described in children. Within this age group, there is considerable clinical overlap between IgG4-related disease associated lymphadenopathy and Hodgkin lymphoma. In addition, lymphadenopathy secondary to IgG4-related disease demonstrates substantial histologic diversity with the potential to simulate the inflammatory background and fibrosis of Hodgkin lymphoma. The importance of accurate diagnosis is underscored by the prognostic implications considering the marked response of the syndrome to steroid therapy. In addition, appropriate follow up is critical to monitor for relapse and additional organ involvement.

Severe IgG4-Related Disease in a Young Child: A Diagnosis Challenge.

Immunoglobulin G4-related disease (IgG4-RD) is an increasingly recognized syndrome that can appear with multiple organ involvement, typically with tumor-like swelling, lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, and elevated serum IgG4 concentrations. We report the case of a 22-month-old female child with failure to thrive and recurrent respiratory tract infections since 8 months of age. Physical examination was normal except for pulmonary auscultation with bilateral crackles and wheezes. Laboratory tests revealed elevated erythrocyte sedimentation rate, and elevated serum IgG and IgG4 with polyclonal hypergammaglobulinemia. Thoracic CT and MRI showed multiple mediastinal lymphadenopathies and a nodular posterior mediastinal mass in right paratracheal location with bronchial compression. Initial fine needle aspiration biopsy was compatible with reactive lymphadenopathy but after clinical worsening a thoracoscopic partial resection of the mass was performed and tissue biopsy revealed lymphoplasmacytic infiltrate and increased number of IgG4-positive plasma cells and a ratio of IgG4/IgG positive cells above 40%. Glucocorticoids therapy was started with symptomatic improvement, reduction in the size of the mass, and decrease of serum IgG4 levels after 6 weeks. There are very few reports of IgG4-RD in children. Long-term follow-up is necessary to monitor relapses and additional organ involvement.

The relationship of biological factors with survival in the spine gunshot injuries

Gunshot injuries are the third leading cause of spinal injuries, after falls from a significant height and traffic accidents. Severity of spinal damage from gunshot injury depends upon certain mechanical and biological factors. The aim of the present study was to investigate the effect of biological factors on survival in cases of spinal gunshot injury. A total of 110 cases of spinal gunshot injury admitted multiple times to emergency services between 2012 and 2014 were included. Age, sex, region of trauma, additional organ or systemic involvement, treatment modalities (conservative, surgical), and mortality rates were analyzed. Effects of biological factors on survival were evaluated. Mean age of the study population was 25.51±11.74 years (min: 4; max: 55) and 95.5% of the population was male. Regions of trauma were thoracic in 50 (45.4%) subjects, cervical in 42 (38.2%), and lumbar in 18 (16.4%). Most common American Spinal Injury Association (ASIA) score was category A, as was found in 77 (70%) cases. No significant correlation was found among age, sex, ASIA score, treatment modality (conservative or surgical), and survival (p>0.05). Additional organ or systemic injury was present in 66 (60%) patients. Additional organ or systemic injury significantly affected survival, independent of the spinal region of trauma (p<0.01). Spinal gunshot injuries are complex, with unclear treatment protocol. Irrespective of the indications of spinal surgery, additional organ injuries unfavorably affect survival in cases of spinal gunshot injury. Appropriate management of all biological factors directly affects mortality rate in cases of spinal gunshot injury.

A case of localized amyloid light-chain amyloidosis in the small intestine.

Amyloidosis is characterized by the abnormal deposition of extracellular amyloid fibrils. Cases involving amyloid light-chain amyloidosis in the small intestine have been reported infrequently in Korea. Here, we report a case of localized light chain protein amyloidosis in the small intestine. Esophagogastroduodenoscopy, push enteroscopy, and capsule endoscopy revealed submucosal tumor-like lesions, multiple shallow ulcers, and several erosions in the distal duodenum and jejunum. An endoscopic biopsy established the diagnosis of amyloidosis. In through an immunohistochemical analysis, the presence of lambda light chain protein was detected. The patient had no evidence of an underlying clonal plasma cell disorder or additional organ involvement. Therefore, we concluded that the patient had localized amyloidosis of the small intestine.