ABSTRACT
Cartilage hypoplasia syndrome is a primary immunodeficiency disease characterized by short stature, hypoplastic hair and a variable degree of immunodeficiency. Noninfectious cutaneous granulomas represent an uncommon yet well-recognized manifestation within the spectrum of primary immunodeficiency diseases. However, cutaneous granulomas as a manifestation of cartilage-hair hypoplasia syndrome, are extremely rare. We present a case of a middle-aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti-TNF-alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti-TNF-alpha drugs in its treatment.
Subject(s)
Adalimumab , Granuloma , Hair , Osteochondrodysplasias , Primary Immunodeficiency Diseases , Skin Ulcer , Humans , Male , Hair/abnormalities , Primary Immunodeficiency Diseases/complications , Primary Immunodeficiency Diseases/diagnosis , Adalimumab/therapeutic use , Skin Ulcer/etiology , Skin Ulcer/drug therapy , Granuloma/drug therapy , Osteochondrodysplasias/complications , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/congenital , Hirschsprung Disease/complications , Hirschsprung Disease/diagnosis , Middle Aged , Hypotrichosis/diagnosisABSTRACT
BACKGROUND: There is increasing interest in actively involving patients in the process of medical research to help ensure research is relevant and important to both researchers and people affected by the disease under study. This project examined the recently formed Vasculitis Patient-Powered Research Network (VPPRN), a rare disease research network, to better understand what investigators and patients learned from working on research teams together. METHODS: Qualitative interviews were conducted by phone with patients, physician/PhD-investigators, and study managers/staff who participated in the network. The question guiding the interviews and observational analysis was: "What have investigators and patients learned about working together while working on VPPRN teams?" Interview transcripts were analyzed in combination with observations from multiple in-person and telephone meetings. RESULTS: Transcripts and notes were reviewed and coded from 22 interviews conducted among 13 patient-partners, 5 study managers/staff, and 4 MD or PhD-investigators, and 6 in-person and 42 telephone/web-conference meetings. Patient-partners and investigators characterized their working relationships with one another, what they learned from their collaborations, and provided recommendations for future teams of patient-partners and investigators. Major themes included the great benefits of communicating about activities, being open to listening to each group member, and the importance of setting reasonable expectations. CONCLUSIONS: Direct engagement in research design and development by patient-partners and co-learning between investigators and patient-partners can result in a positive and productive working relationship for all members of a medical research team. This bi-directional engagement directly benefits and impacts research design, participant recruitment to studies, and study subject retention.
Subject(s)
Biomedical Research/methods , Patient Participation/methods , Humans , Interviews as Topic , Physicians , Qualitative ResearchABSTRACT
La hernia diafragmática tras una esofagectomía transhatial es una complicación grave, especialmente cuando el diagnóstico es tardío. Presentamos el caso de una paciente que desarrolló una obstrucción completa del intestino delgado por una hernia diafragmática que se presentó tras una esofagectomía transhiatal. Paciente de 55 años, sexo femenino, que presentaba un carcinoma escamoso del tercio distal del esófago. Se realizó esofagectomía transhatial, con gatroplastía tubular transmediastínica posterior. En el 5º día postoperatorio presenta dolor torácico, vómitos, dificultad respiratoria y polipnea. El examen físico demostró clínica de derrame pleural en el hemitórax derecho. La radiografía de tórax mostró imagen de ocupación pleural en el hemitórax derecho y la radiología contrastada gastrointestinal mostró un asa de intestino delgado en hemitórax izquierdo. En la laparotomía exploradora se comprueba hernia a través del orificio hiatal ampliado y en hemitórax izquierdo con estrangulación y perforación de una asa yeyunal. Se realizó reducción del contenido herniario y enterorrafia. Evolución tórpidamente y egresa del hospital en buenas condiciones a los 57 días del postoperatorio
