一例急性呼吸窘迫综合征患者的循证非机械通气治疗

目的为1例肺部感染引起的急性呼吸窘迫综合征患者制定非机械通气治疗方案。方法根据患者临床状况,提出液体管理、药物治疗等临床问题,通过文献检索,根据所获证据给患者制定非机械通气治疗方案。结果现有证据显示：在保证器官灌注的前提下进行限制性液体治疗、早期小剂量应用糖皮质激素、白蛋白联合速尿有助于改善患者预后。NO吸入、β-2肾上腺素受体激动剂、肺表面活性物质、抗真菌药物、粒细胞-巨噬细胞集落刺激因子目前不推荐作为ARDS的常规治疗。结合患者情况,应用证据治疗后,患者最终康复出院。结论以循证医学证据指导临床治疗,能提高ARDS疗效,降低病死率。     

Overlap of sturge-weber syndrome and klippel-trenaunay syndrome

Sturge-Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel-Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge-Weber syndrome in combination with Klippel-Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes.     

俯卧位时间不足不能有效改善急性呼吸窘迫综合征／急性肺损伤时的氧合状态

目的比较24h内不同俯仰卧位辅助通气时间对急性呼吸窘迫综合征／急性肺损伤（ARDS／ALI）时氧合状态和血液动力学的影响。方法健康雌性小型猪15只,经气管插管注射盐酸制备ARDS模型,随机均分为俯卧8h＋仰卧16h组（8h组）、俯卧16h＋仰卧8h组（16h组）、持续俯卧24h组（24h组）。每4h测量动脉血气、心排量（CO）和肺动脉楔压（PAWP）,计算氧合指数（PaO2/FiO2）和心脏指数（CI）,记录24h内动物死亡的情况。结果3组模型在制模前PaO2/FiO2均〉300mmHg,制模成功时的PaO2/FiO2均≤200mmHg。3组模型在实施肺保护性通气和体位治疗后PaO2/FiO2均呈上升趋势。16h组与24h组动物氧合指数的改善优于8h组动物（均P〈0．05）;3组动物的血液动力学指标24h变化在正常范围,组间差异无统计学意义（均P〉0．05）。结论每天实施8h俯卧位辅助通气不能有效改善ARDS／ALI时的氧合状态,早期足量（16h或以上）的俯卧位辅助通气可以安全有效地提高氧合,并有望降低病死率。     

Generalized pustular psoriasis complicated by acute respiratory distress syndrome

Psoriasis has a chronic and relatively benign course. However, severe complications are possible. One rare complication is acute interstitial pneumonitis. This entity should be suspected when a patient presents with dyspnoea and high fever. Knowledge of this pathology is crucial, for although it is essential to rule out aetiologies requiring specific management such as microbial infection or drug-related syndromes, diagnosis should not be delayed as its severe clinical course is improved by corticosteroids. We report two patients with an acute respiratory distress syndrome arising during the course of pustular psoriasis. Repeated bacteriological testing in lungs and blood remained negative. In both cases lung involvement was severe, requiring artificial ventilation. Dramatic clinical resolution was obtained by using corticosteroids. Besides infectious causes and drug hypersensitivity to methotrexate or acitretin, acute respiratory distress syndrome, sometimes due to a pulmonary capillary leak syndrome, is a rare cause of pneumonitis in the course of psoriasis, and may be fatal. Its pathogenesis is unknown. However, animal models suggest a role for T-helper (Th) 1 lymphocytes, known to be activated in psoriasis, and a role for tumour necrosis factor-alpha, a major Th1 cytokine, in alveolar damage.     

Ross syndrome with ana positivity: a clue to possible autoimmune origin and treatment with intravenous immunoglobulin

A 28-year-old serving soldier presented with patchy areas of absence of sweating and blurring of vision. On examination he was found to have segmental anhidrosis, right sided tonic pupil and absent ankle jerks. Investigations revealed ANA positivity with no other abnormalities. He was treated with Intravenous immunoglobulin. This case of Ross syndrome is reported for its rarity as well as a clue to its probable autoimmune origin and treatment option with intravenous immunoglobulins.     

Waterhouse-friderichsen syndrome in an adult patient with meningococcal meningitis

Waterhouse-Friderichsen syndrome is one of the fatal complications of meningococcal infection. Here we report a fatal case of this syndrome due to Neisseria meningitidis in a 29-year-old male patient who was admitted with high-grade fever and chills and vomiting since 7 days, a skin rash over the abdomen and trunk, and altered sensorium since 2 days. On examination, the signs of meningitis were present along with the hemorrhagic rash. The diagnosis of adrenal hemorrhage was confirmed by computerized tomographic scan findings. The patient was started on intravenous ceftriaxone, and the cerebrospinal fluid was processed for bacterial culture, which yielded growth of N meningitidis. The patient's condition deteriorated; he developed purpura along with a fall in platelet count, and died due to shock. This case is being reported as such a complication is comparatively rare in this antibiotic era, especially in adults, and starting steroids like dexamethasone prior to antibacterial therapy may be useful to diminish the inflammation brought about by bacterial cell death and thus help in reducing the otherwise high mortality in these cases.     

Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.     

Cardiofaciocutaneous syndrome: a rare entity

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.     

两种通气方式对急性呼吸窘迫综合征患者肺容积和氧合的影响

目的探讨相同气道平台压（Pplat）下不同潮气量（VT）和呼气末正压（PEEP）对急性呼吸窘迫综合征（ARDS）患者肺容积和氧合的影响。方法对16例ARDS机械通气患者,随机先后采用低VT（6ml/kg）和高VT（9ml／kg）两种通气,调节PEEP使Plat维持在25cmH2O水平。各方式通气1h,通气结束时测定患者呼气末容积（EELV）和气体陷闭量并计算功能残气量（FRC）,同时观察动脉血气、肺机械力学和血流动力学变化。结果低VT通气结束时EELV和FRC高于高VT通气结束时（P均〈0．05）;低v,通气结束时的气道峰）i,（PIP）、气道阻力（Raw）~lJ低于高v,通气结束时（P均〈0．01）;低VT通气结束时的气道平均压（Pm）高于高Vt通气结束时（P〈0．05）;两种通气结束时气体陷闭量、动态肺顺应性（Cdyn）、氧合指数（PO2/FiO2）、PCO2、心率（HR）、平均动脉压（MAP）均无显著性差异（P均〉0．05）。结论在一定Pplat下ARDS患者采用低VT高PEEP通气后肺容积增加,但无法辨别是肺泡复张还是过度膨胀。     

Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI

Background:

Netherton syndrome (NS) is a severe autosomal recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, ichthyosis linearis circumflexa, atopic diathesis, and frequent bacterial infections. The disease is caused by mutations in the SPINK5 (serine protease inhibitor Kazal-type 5) gene, a new type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. We report one Chinese adult with NS. The patient had typical manifestation of NS except for trichorrhexis invaginata with an atopic diathesis and recurrent staphylococcal infections since birth.

Aims:

To evaluate the gene mutation and of its product activity of SPINK5 gene in confirmation of the diagnosis of one Chinese adult with NS.

Materials and Methods:

To screen mutations in the SPINK5 gene, 33 exons and flanking intron boundaries of SPINK5 were amplified with polymerase chain reaction (PCR) and used for direct sequencing. In addition, immunohistochemical staining of LEKTI (lymphoepithelial Kazal-type-related inhibitor) with specific antibody was used to confirm the diagnosis of NS. The results were compared with that of healthy individuals (twenty-five blood samples).

Results:

A G318A mutation was found at exon 5 of patient''s SPINK5 gene which is a novel missense mutation. The PCR amplification products with mutation-specific primer were obtained only from the DNA of the patients and their mother, but not from their father and 25 healthy individuals. Immunohistochemical studies indicated there was no LEKTI expression in NS patient''s skin and there was a strong LEKTI expression in the normal human skin.

Conclusion:

In this report, we describe heterozygous mutation in the SPINK5 gene and expression of LEKTI in one Chinese with NS. The results indicate that defective expression of LEKTI in the epidermis and mutations of SPINK5 gene are reliable for diagnostic feature of NS with atypical clinical symptoms.     

急性呼吸窘迫综合征患儿血清胆碱酯酶、前白蛋白变化及预后的关系

目的了解急性呼吸窘迫综合征（ARDS）患儿急性期血清胆碱酯酶（CHE）、前白蛋白（PA）变化特点及临床意义,探讨CHE及PA变化及对预后的影响。方法51例的ARDS患儿分为未愈,死亡组（16例）与治愈／存活组（35例）,设同龄普通肺炎对照组患儿30例,全部于入组当天及患ARDS最重时分别检测血清CHE、血气分析、肝功能其他各项指标,41例同时检测血清PA。结果未愈,死亡组ARDS患儿于入组时及最重时血清CHE及PA均显著低于治愈／存活组（人组时均P〈0．05,最重时均P〈0．01）,氧合指数（PaOJFiO：）亦显著较低（均P〈0．05）。与正常儿童比较,两组的血清CHE、PA以及氧合指数均显著较低（均P〈0．01）。结论ARDS患儿急性期存在不同程度的血清CHE、PA及氧合指数降低,血清CHE、PA及氧合指数在一定程度上体现ARDS患儿病情的危重程度,对判断ARDS患儿预后有参考价值。     

Scle-lp overlap syndrome

A 35-year-old female presented with scaly annular and pigmented lesions all over the body of 2 years duration. Her clinical features, histopathology, immunofluorescence findings and positive ANA and anti-Ro antibodies were suggestive of subacute cutaneous lupus erythematosus-lichen planus. We report this case because of its clinical rarity.     

Pustulotic arthro-osteitis (sonozaki syndrome)

Pustulotic arthro-osteitis, first described by Sonozaki, is a relatively rare disorder. Its prevalence is however probably underestimated in dermatological literature. Early recognition of the signs can prevent misdiagnosis. We describe a Turkish patient who presented with palmoplantar pustulosis and involvement of the sternoclavicular joint and peripheral oligoarthritis.     

Kasabach merritt syndrome: management with interferon

Kasabach Merritt Syndrome (KMS) is a rare, locally aggressive, vascular tumor. The objectives of treatment of KMS are to prevent bleeding from consumptive coagulopathy and induce vascular tumor regression. A 14-month old female child was brought with a reddish lesion on the left scapular area noticed at birth, which suddenly increased in size since 3 days. Hemogram revealed anemia severe thrombocytopenia, prolongation of bleeding, clotting time and increased fibrin degradable products, suggestive of KMS. Coagulopathy was managed by transfusing fresh frozen plasma and platelets. Oral prednisolone up to 5mg/kg/day for four weeks yielded no effect on thrombocytopenia or regression of tumor size. Embolization of feeding artery was attempted but not feasible. We used Interferon -alpha- 2b (IFN α 2b), in a dosage of 3million IU/m(2) /day subcutaneously. Within a month the platelet count increased and the vascular tumor started regressing. This case signifies the importance of step wise management of KMS.     

Hypereosinophilic syndrome: cutaneous involvement as the sole manifestation

Hypereosinophilic syndrome (HES) encompasses a group of leukoproliferative disorders with variable involvement of the internal organs. More than half of all patients have cutaneous involvement. In a minority of the reported cases, skin involvement has been the only manifestation of HES . We report one such rare case of HES, with cutaneous involvement as the sole manifestation.     

Churg-strauss syndrome without respiratory symptoms in a child

Churg-Strauss Syndrome (CSS) is rare in children. It consists of a small- and medium-sized vessel vasculitis, with skin and peripheral nerve involvement. It is characterized by eosinophilia, extravascular necrotizing granuloma, and eosinophilic infiltration of multiple organs particularly the lungs, but may also involve the gastrointestinal tract, the heart, and the kidneys. The condition is usually associated with a preceding history of asthma or allergic sinusitis. It has rarely been reported in children, where most of the cases had pre-existing asthma, allergic rhinitis, or atopic disease. We report a 10-year-old Arab girl proven to have CSS, with no history of asthma or allergic rhinitis, who presented with tender cutaneous nodules of lower extremities, foot drop, and peripheral eosinophilia, without any clinical respiratory symptoms or signs.     

Kindler'S syndrome: a case series of three Indian children

Kindler's syndrome is a very rare genodermatosis characterized by acral blistering starting in infancy, photosensitivity, progressive poikiloderma, cutaneous atrophy, and various forms of mucosal involvement. A large number of other cutaneous and extracutaneous features have also been described. We report here three cases of Kindler's syndrome from eastern India for the rarity of the syndrome and to emphasize the importance of considering this condition in the differential diagnosis of disorders that can cause blistering, cutaneous atrophy, and/or poikilodermatous skin changes.     

Olmsted syndrome: report of two cases

Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made.     

急性呼吸窘迫综合征患者半卧位及俯卧位通气时血流动力学和肺顺应性的变化

目的探讨急性呼吸窘迫综合征患者半卧位改俯卧位通气时对血流动力学和肺顺应性的影响。方法急性呼吸窘迫综合征机械通气患者,在半卧位时,俯卧位通气1h后,通气2h后,结束俯卧位通气后1h分别采集肺静态顺应性（Cst）,气道阻力（Paw）,氧合指数,心排血量（CO）,胸液成分（TFC）,心肌加速度指数（ACI）,外周血管阻力（SVR）等数据,统计分析。结果俯卧位通气后患者氧合指数较半卧位明显上升,肺静态顺应性下降,气道阻力上升（P〈0.05）,心排血量下降,胸液成分指数和外周血管阻力增加（P〈0.05）,心肌加速度指数没有明显变化（P〉0.05）。结论急性呼吸窘迫综合征患者行半卧位通气并短暂俯卧位通气,可有效改善肺通气和向流动力学状况。     

Multiple Hamartoma Syndrome: Clinicoradiological Evaluation and Histopathological Correlation with Brief Review of Literature

Cowden syndrome (CS) or multiple hamartoma syndromes (MHSs) is an uncommon condition and characterized by mucocutaneous lesions which may be associated with the lesions of breast, thyroid, gastrointestinal tract, skin, and often of central nervous system. A thorough evaluation of Cowden''s disease is essential due to increased risk of malignancy in an organ or system of the affected patients. We are reporting a case of female patient who presented with multiple mucocutaneous papilloma associated with involvement of multiple organs and systems. The diagnosis was confirmed by multimodality diagnostic approach. This rare entity has not being reviewed in Indian literature till date. Being a rare case, we are discussing MHS with its clinicoradiological and histopathological correlation along with brief review of literature.