Clinical phenotypes of primary ciliary dyskinesia / 中南大学学报(医学版)

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.

A Case of Ileal Duplication Cyst Lined by Ciliated Columnar and Squamous Epithelium / 대한소화기학회지

Duplication is a rare congenital abnormality and may occur in any region of the gastrointestinal tract. A 19-year-old woman was admitted due to lower abdominal pain. Abdomino-pelvic CT scan showed a cystic mass interpreted as mesenteric cyst or duplication cyst. On the operation finding, it seemed to be arised from mesentery but attached to the ileum. Microscopically, the cystic wall was lined by non-keratinizing squamous, ciliated pseudostratified columnar epithelium, and ectopic gastric mucosa with two distinct muscular layers and a serosa. We report the first case of ileal duplication cyst lined by squamous and ciliated columnar epithelium in Korea.

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver. The disorder is observed primarily in infancy and childhood, being responsible for significant pediatric morbidity and mortality. All typical forms of ARPKD are caused by mutations in a single gene, PKHD1 (polycystic kidney and hepatic disease 1). This gene has a minimum of 86 exons, assembled into multiple differentially spliced transcripts and has its highest level of expression in kidney, pancreas and liver. Mutational analyses revealed that all patients with both mutations associated with truncation of the longest open reading frame-encoded protein displayed the severe phenotype. This product, polyductin, is a 4,074-amino acid protein expressed in the cytoplasm, plasma membrane and primary apical cilia, a structure that has been implicated in the pathogenesis of different polycystic kidney diseases. In fact, cholangiocytes isolated from an ARPKD rat model develop shorter and dysmorphic cilia, suggesting polyductin to be important for normal ciliary morphology. Polyductin seems also to participate in tubule morphogenesis and cell mitotic orientation along the tubular axis. The recent advances in the understanding of in vitro and animal models of polycystic kidney diseases have shed light on the molecular and cellular mechanisms of cyst formation and progression, allowing the initiation of therapeutic strategy designing and promising perspectives for ARPKD patients. It is notable that vasopressin V2 receptor antagonists can inhibit/halt the renal cystic disease progression in an orthologous rat model of human ARPKD.

Disquinesia ciliar primaria: presentación de un caso clínico / Primary ciliary dyskinesis: a clinical case

Se presenta el caso de un varón de 13 años, portador de una disquinesia ciliar primaria confirmada por biopsia. Se detalla su historia clínica, el estudio multidisciplinario realizado, así como la forma en que se llegó al diagnóstico. Junto al caso clínico, se realiza una revisión del cuadro de la disquinesia ciliar primaria, considerando sus principales aspectos clínicos y etiopatogénicos, así como los elementos diagnósticos fundamentales.

Cilial aplasia of the respiratory tract - the first report in a Qatari family

We report two siblings with primary ciliary aplasia, a rare manifestation of primary ciliary dyskinesia. It produces, however the same clinical features as other subtypes and management is unaltrered

Pathological variations in the ultrastructure of human nasal cilia

The electron microscopic structure of cilia from the inferior turbinate of the nose was studied in twenty four adults. Ten patients with chronic sinusitis, eight patients had deviated nasal septum, two patients with allergic rhinitis and the changes were compared with those found in four healthy persons as a control group. There were variations in the microtubular pattern, dynein arms were not seen and compound cilia were observed in the cases of chronic sinusitis, deviated nasal septum and in allergic rhinitis

Tratamento cirúrgico da triquíse maior / Surgical treatment for larger trichiasis

O objetivo deste trabalho foi conhecer as características dos portadores de triquíse maior e a resposta ao tratamento (cirurgia de Van Millingen). Foram avaliados 100 pacientes portadores da patologia e observou-se que a doença foi mais frequente em pacientes acima da sexta década de vida, portadores de tracoma cicatricial, cirurgia palpebral prévia, blefarite e meibomite. A pálpebra superior e a inferior foram acometidas nas mesmas proporçöes. A resposta ao tratamento cirúrgico foi pior nos portadores de triquíase associada ao entrópio, havendo necessidade de nova cirurgia em 23,1 p/c dos pacientes. Os autores responsabilizam o caráter crônico-evolutivo das patologias de base pelas falhas do tratamento

Tratamento por eletrólise do mal posicionamento dos cílios palpebrais / Eletrolysis treatment of eyelashes misdirection

Avaliou-se 292 pacientes portadores de alteraçäo do posicionamento dos cílios palpebrais. A maioria tinha de 60 a 79 anos de idade; 88,8 por cento eram portadores de triquíase; 56 por cento de entrópio associado à triquíase, 5,0 por cento de distiquíase adquirida e 0,6 por cento de distiquíase congênita. A pálpebra inferior foi afetada mais frequentemente que a superior

Triquíase pós-tricotomia pré-operatória: um estudo prospéctivo / Trichiasis post-tricotomy before surgery: a prospective study

Os autores descrevem um estudo prospectivo de 96 olhos, onde foi realizada tricotomia pré-cirúrgica e observando o crescimento dos cílios aos 15, 30, 60 e 90 dias, levando em consideraçäo: idade, cor, exame prévio oftalmológico completo, sintomas e exame clínico. Do total de olhos estudados, 09 apresentaram triquíase, ou sejam, 9,37 por cento, representando um incidência estatísticamente significante. Na quase totalidade dos casos, os cílios anômalos estavam localizados na regiäo central da pálpebra inferior, inicialmente em número de 3, prejudicando o pós-operatório e naessiade de tratamento.

Triquíase: fotocoagulaçäo com laser argônio / Trichiasis: argon laser therapy

Foram avaliadas 40 pálpebras de 32 pacientes submetidos a tratamento da triqíase com laser argônio. De 143 cílios tratados, 127 (88,8%) foram eliminados com apenas uma sessäo de tratamento. Dos 16 cílios (11,2%) recidivados, 12 foram eliminados após uma segunda coagulaçäo, obtendo um total de cura após uma segunda coagulaçäo, obtendo um total de cura após esta segunda sessäo, de 97,2%. Nenhuma complicaçäo do tratamento foi observado no período do seguimento (1-5 meses). O método se mostrou seguro e de grande eficácia para o tratamento da triquíase

Estudo da clínica ocular em hansenianos em hospital de dermatologia sanitária: a prevençäo em nossas mäos / Ocular study of Hansen's disease at a dermatological hospital: the prevention in our hands

Este estudo foi baseado na observaçäo de 363 pacientes portadores de diferentes tipos da Doença de Hansen. Ao examinarmos o paciente, näo tínhamos conhecimento prévio do seu tipo de lepra, de modo que o exame do paciente podia ser realizado sem que houvesse a influência de um diagnóstico precedente. O protocolo consistiu dos seguintes ítens: acuidade visual, funçäo do músculo facial, estudo das sobrancelhas, cílios, aparelho lacrimal, pupila, motilidade ocular, sensibilidade corneana, teste de Schirmer e estudo do segmento anterior do globo ocular com lâmina de fenda. Nosso estudo compreendeu 363 pacientes portadores das seguintes formas: Virchowiana (275), Tuberculóide (57), Indeterminada (29) e Dimorfa (2). A idade variou de 18 a 82 anos. Havia: 229 homens e 134 mulheres; 183 brancos, 157 mulatos e 23 negros