Eculizumab therapy in a patient with dense-deposit disease associated with partial lipodystropy

Background

Dense deposit disease (DDD) (also known as membranoproliferative glomerulonephritis type II) in childhood is a rare glomerulonephritis with frequent progression to end-stage renal disease (ESRD) and a high recurrence after kidney transplantation. The pathophysiologic basis of DDD is associated with the uncontrolled systemic activation of the alternative pathway (AP) of the complement cascade.

Case-diagnosis/treatment

A 14-year-old girl presented with edema and nephrotic range proteinuria. Blood tests showed hypoalbuminemia, nephrotic range proteinuria, normal renal function, and a low C3 level. Renal biopsy confirmed the diagnosis of crescentic DDD. Complement analysis revealed strong AP activation (low C3), positive C3 nephritic factor (C3NeF), and a decreased complement factor H (CFH) levels with CFH polymorphisms. Therapy with eculizumab was considered after the failure of corticosteroid and plasmapheresis to modulate the ongoing massive proteinuria and persistence of low serum C3 levels. There was a marked clinical and biochemical response following the administration of eculizumab.

Conclusions

Our case emphasizes the efficacy of eculizumab in the management of crescentic DDD in a patient with a normal renal function, in a short follow-up period. Considering previously reported cases, it appears that eculizumab represents a promising new approach which may prevent progression to ESRD in a subset of patients with DDD.     

Ochronosis diagnosed after knee arthroscopy

INTRODUCTION

Ochronosis is a rare disorder which is defined as the deposition of metabolites of oxidation and polymerization of homogentisic acid, which have high affinity to collogen, in the connective tissues. It is a clinical condition characterized with ochronotic pigmentation of tissues, degenerative arthropathy of especially large joints and black discoloration of urine. In this paper we present a case of ochronosis diagnosed with biopsy and additional tests when a black discoloration of menisci and joint cartilage were detected during arthroscopic intervention for a degenerative meniscus tear.

PRESENTATION OF CASE

A forty two year-old male patient was operated for lateral meniscus tear of his right knee. The arthroscopic examination of right knee revealed black colored synovial hypertrophy and torn lateral meniscus. Partial meniscectomy was performed. The diagnosis of ochronosis was made after histopathologic examination.

DISCUSSION

Ochronotic pigment can accumulate in hyaline cartilage, tendon, skin, teeth, nail, sclera, tympanic membrane, heart valves, renal tubular cells, duramater, pancreas and walls of large arteries. In ochronosis the most frequently involved joints are knee and hip. In ochronotic arthropathy, articular cartilage become more sensitive to mechanical stresses. Our patient had meniscal tear, cartilage damage and black discoloration of synovial tissues and meniscus.

CONCLUSION

Arthroscopy may be helpful in diagnosis of ochronotic arthropathy.     

The appearance of free-air in the abdomen with related pneumatosis cystoides intestinalis: Three case reports and review of the literature

INTRODUCTION

Pneumatosis sistoides intestinalis (PSI) is a rare condition with unknown origin, defined as the appearance of gas-filled cysts in the intestinal wall. It usually occurs due to respiratory infections, tumor or collagen disease, traumas, immunosuppression.

PRESENTATION OF CASE

Three patients with PSI were examined that followed up and treated in our clinic. The first patient was hospitalized for emergency treatment of previously diagnosed free-air under the diaphragm. He had a defense on physical examination and free-air was detected in X-ray and abdomen CT. We decided to laparatomy and peroperatively, stenotic pylorus with an abnormally increased stomach and gas-filled cysts were seen in the terminal ileum. Antrectomy and gastrojejunostomy with partial ileum and cecum resection and end ileostomy were performed. The second patient underwent laparatomy because of intraperitoneal free-air and acute abdomen. Partial ileum and cecum resection and ileotransversostomy were performed. The third patient with intraperitoneal free-air was treated with antibiotics, oxygen treatment and bowel rest.

DISCUSSION

PSI is usually asymptomatic. Plain radiographs, USG, CT, upper gastrointestinal endoscopy, colonoscopy can use for diagnosis. Treatment of PSI depends on the underlying cause; include elemental diet, antibiotics, steroids, hyperbaric oxygen therapy and surgery.

CONCLUSION

In patients with asymptomatic and symptomatic PSI are different treat. Symptomatic PSI can be safely treated antrectomy and gastrojejunostomy with partial ileum and cecum resection.     

An unusual presentation of perforated appendicitis in epigastric region

INTRODUCTION

Atypical presentations of appendix have been reported including backache, left lower quadrant pain and groin pain from a strangulated femoral hernia containing the appendix. We report a case presenting an epigastric pain that was diagnosed after computed tomography as a perforated appendicitis on intestinal malrotation.

PRESENTATION OF CASE

A 27-year-old man was admitted with a three-day history of epigastric pain. Physical examination revealed tenderness and defense on palpation of epigastric region. There was a left subcostal incision with the history of diaphragmatic hernia repair when the patient was 3 days old. He had an intestinal malrotation with the cecum fixed at the epigastric region and the inflamed appendix extending beside the left lobe of liver.

DISCUSSION

While appendicitis is the most common abdominal disease requiring surgical intervention seen in the emergency room setting, intestinal malrotation is relatively uncommon. When patients with asymptomatic undiagnosed gastrointestinal malrotation clinically present with abdominal pain, accurate diagnosis and definitive therapy may be delayed, possibly increasing the risk of morbidity and mortality.

CONCLUSION

Atypical presentations of acute appendicitis should be kept in mind in patients with abdominal pain in emergency room especially in patients with previous childhood operation for diaphragmatic hernia.     

A case of thrombocytopenia associated with the use of hydroxychloroquine following open heart surgery

INTRODUCTION

Thrombocytopenia is a common problem occurring in patients and drug-induced thrombocytopenia is a significant cause of thrombocytopenia.

PRESENTATION OF CASE

We present an unusual case of thrombocytopenia that was considered to be associated with the use of hydroxychloroquine in the late term following open heart surgery.

DISCUSSION

The drug-induced thrombocytopenia, mechanical destruction of the platelets, and hemodilution are common causes of low platelet count. Although drug-induced immune thrombocytopenia has a mild clinical course in most cases (in this case it has severe clinical course), some patients may experience life-threatening hemorrhages. The decision to discontinue the drug that is deemed to be responsible from the drug-induced thrombocytopenia (DITP) relies on the clinical condition of the patient. The diagnosis is mostly established by discontinuation, exclusion, and correlation because the tests performed to detect drug-dependent antibodies (DDAbs) for the diagnosis of DITP are time-consuming, and these tests are also not commonly available. The authors of the current study diagnosed DITP by discontinuation of the drug. We suggest that the use of hydroxychloroquine could be severe thrombocytopenia occurring after open heart surgery.

CONCLUSION

The medication history must be carefully reviewed in patients presenting with thrombocytopenia, and if the medications could cause thrombocytopenia must be discontinued.     

Diffusion tensor imaging-based tissue segmentation: validation and application to the developing child and adolescent brain

We present and validate a novel diffusion tensor imaging (DTI) approach for segmenting the human whole-brain into partitions representing grey matter (GM), white matter (WM) and cerebrospinal fluid (CSF). The approach utilizes the contrast among tissue types in the DTI anisotropy vs. diffusivity rotational invariant space. The DTI-based whole-brain GM and WM fractions (GMf and WMf) are contrasted with the fractions obtained from conventional magnetic resonance imaging (cMRI) tissue segmentation (or clustering) methods that utilized dual echo (proton density-weighted (PDw)), and spin-spin relaxation-weighted (T2w) contrast, in addition to spin-lattice relaxation weighted (T1w) contrasts acquired in the same imaging session and covering the same volume. In addition to good correspondence with cMRI estimates of brain volume, the DTI-based segmentation approach accurately depicts expected age vs. WM and GM volume-to-total intracranial brain volume percentage trends on the rapidly developing brains of a cohort of 29 children (6-18 years). This approach promises to extend DTI utility to both micro and macrostructural aspects of tissue organization.     

Seasonal variation in the association between household food insecurity and child undernutrition in Bangladesh: Mediating role of child dietary diversity

Household food insecurity (HFI) and child dietary diversity (CDD) are variable across seasons. We examined seasonal variation in HFI and child undernutrition association and tested how CDD mediates this association. We analyzed data for 26,353 children aged 6–59 months drawn from nationally representative cross-sectional Food Security and Nutrition Surveillance Project data collected during 2012–2014 in Bangladesh across three seasons annually: Post-Aman harvest (January–April); Monsoon (May–August); and Post-Aus harvest (September–December). Multivariable logistic regression analysis adjusted for individual, maternal, household and geographical characteristics reveals that children of food-insecure households were more likely than food-secure households to be stunted (adjusted odds ratio, AOR: 1.12; 95% confidence interval, CI: 1.02–1.23; p < 0.05), wasted (AOR: 1.21; 95% CI: 1.05–1.39; p < 0.01) and underweight (AOR: 1.16; 95% CI: 1.04–1.3; p < 0.01). CDD mediated 6.1% of the total effect of HFI on underweight. These findings varied across seasons. HFI was associated with greater odds of underweight during Monsoon (AOR: 1.32; 95% CI: 1.08–1.62; p < 0.01) and Post-Aus (AOR: 1.21; 95% CI: 1.06–1.37; p < 0.01) while wasting during Post-Aus (AOR: 1.65; 95% CI: 1.35–2.01; p < 0.001). CDD largely mediated the total effect of HFI on underweight during the Post-Aman in 2012–2014 (23.2%). CDD largely mediated the total effect of HFI on wasting (39.7%) during Post-Aman season in 2014 and on underweight (13.7%) during the same season in 2012. These findings demonstrate that HFI is seasonally associated with child undernutrition and mediated by CDD as well in Bangladesh and seasonality and diversity should be considered while designing appropriate population-level food-based interventions to resolve child undernutrition.     

Anatomic implications of lesser trochanterplasty

Objective

The aim of this study was to measure the area of iliopsoas tendon attachment and the distance of sciatic nerve, medial circumflex femoral artery (MCFA) and quadratus muscle to lesser trochanter tip, before and after 5, 10, 15 mm depth excision of lesser trochanter.