Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase (Review).

Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the most severe metabolic diseases, manifesting as early-onset mitochondrial encephalo-cardiomyopathies. Since ATP synthase subunits are encoded by both mitochondrial and nuclear DNA, pathogenic variants can be found in either genome. In addition, the biogenesis of ATP synthase requires several assembly factors, some of which are also hotspots for pathogenic variants. While variants of MT-ATP6 and TMEM70 represent the most common cases of mitochondrial and nuclear DNA mutations respectively, the advent of next-generation sequencing has revealed new pathogenic variants in a number of structural genes and TMEM70, sometimes with truly peculiar genetics. Here we present a systematic review of the reported cases and discuss biochemical mechanisms, through which they are affecting ATP synthase. We explore how the knowledge of pathophysiology can improve our understanding of enzyme biogenesis and function.

TWISTED DISTAL LATERAL ARM FLAP FOR IMMEDIATE RECONSTRUCTION OF THUMB AVULSION INJURY.

BACKGROUND: Replantation is a complicated procedure in avulsion injuries in majority of the cases. When replantation of an avulsed thumb is not feasible, it is mandatory to find an appropriate reconstruction choice as soon as possible due to the importance of the thumb function in the dynamics of the handgrip. MATERIALS AND METHODS: Three patients with skin avulsion injury underwent immediate reconstruction by twisted lateral arm flap in our department since 2004. RESULTS: No infection, hematoma, partial or complete flap necrosis were observed after the procedure. All of the flaps healed without complications. CONCLUSION: Although the gold standard in reconstruction of these trauma defects is the use of local skin flaps or distant inguinal flap, these reconstructive choices have multiple drawbacks such as the loss of sensibility and they are thicker. In thispaper we propose a modification of distally planned lateral arm flap design and a new technique of its spiral shaping for immediate thumb reconstruction.

Dorsoradial forearm flap with silicone bone spacer in reconstruction of A combined THUMB injury - case report.

Osseous reconstruction of the thumb following traumatic bone loss can be approached through a variety of techniques. The use of a silicone spacer with secondary bone grafting is a valid therapeutic option. In case of combined injuries, simultaneous immediate reconstruction of missing soft tissues over the spacer by well-vascularised skin cover is essential. Dorsoradial forearm flap has recently been described as distally based cutaneous pedicled flap on the dorsoradial artery, a constant branch of the radial artery. A case of a 52-year-old male patient with a combined injury of the thumb with bone loss of the proximal phalanx and with the loss of dorsal skin reconstructed primarily with bone silicon spacer and together with emergency dorsoradial forearm flap is reported together with a brief literature review.

[Septic shock in a patient with the Fournièr gangrene with fatal outcome]. / Septický sok u pacienta s Fournièrovou gangrénou s fatálním koncem.

AIM: The authors present a case of a patient with developed Fournièr gangrene and septic shock. Fournièr gangrene belongs to the group of local non-specific infection of soft tissues (NSTI). Its incidence is relatively low, but the infection is extraordinary aggressive with a possible lethal end. MATERIAL AND METHOD: 39 years old patient with 4 days history of Fournier gangrene's development was admitted in irreversible septic shock. The initial APACHE II score was 36. The delay in treatment was an important factor in the further course of illness with lethal end. RESULTS: Above the mentioned 39 years old patient died because of septic shock. The hemorrhagic cystitis was the original source of infection with further development of Fournièr gangrene according to the pathological record. CONCLUSION: We often come across all different kinds of stages of sepsis from the MODS to the septic shock for patients with Fournièr gangrene. Causal treatment should be started early. The local surgical excision and wide broad antibiotic administrations are basic treatments in the context of other treatment modalities according to the current patient's needs. The adjuvant hyperbaric oxygen treatment takes place in patients with Fournièr gangrene as well and is beneficial. The following factor even worsens the illness prognosis: delay in diagnostic, higher age, anorectal origin of infection, the amount of organ with dysfunction or failure, diabetes mellitus and significant immunodeficiency.

[ACE procedure for life long constipation in adult]. / ACE operace pro dlouhodobou obstipaci u dospelého.

AIM: The authors present a possibility of Malon Operation in adult patients with chronic constipation. They determine the quality of life at a pre-operative time and 3 months post-operatively after ACE operation. MATERIAL AND METHOD: ACE is an "antegrade continent enema "operation carried out via a short laparotomy or laparoscopy creating appendicostomy. It serves as a port for enema delivery after catheter access. It is performed for constipation commonly in children and extremely rarely in adults. 46 years old lady has had a severe constipation (1x > 6 weeks) since her early childhood. The usage of laxatives had been progressively increased to achieve the best result. The patient experienced left iliac fossa pain, cramp, spurious diarrhea, anal seepage, spoilage of undergarments, tenesmus, urge incontinence, and social impairment as well. Other features included fibromyalgia and a very strong family history of colorectal cancer. She was examinated according to the guidelines for chronic constipation. Colonic transit study revealed a slow-colonic time and a global inertia of colon. ACE operation was performed in June 2006. RESULTS: The result at 3 months after surgery was frequency 2x/week within 10/30 minutes after self administrated ACE (PO4 + 100ml saline) with very occasional soilage. The progressive resistance in track at 8-10cm from skin level occurred 2 months after surgery. Contrast appendiculogram revealed an angulation and a very mild stenosis at appendico-caecal junction. Radiological balloon dilatation to 14F followed with effect. The quality of life assessment at pre-operative and 3 months post-ACE procedure revealed no difference. On specific questioning the predictability of bowel motion was found as a sole benefit. CONCLUSION: A non-resective appendicostomy for ACE for severe life-long constipation showed no improvement on QoL instrument. However, it resulted in improvement of the predictability of bowel action. ACE technique - Malon Operation can be used as a treatment method for selected adult patients with severe constipation.

Cleft palate repair by Furlow double-reversing Z-plasty: first speech results at the age of 6 years.

The authors evaluated the first 15 six-year-old children operated on for cleft palate using double-reversing Z-plasty. Examination by a surgeon did not reveal a higher morbidity as a results of the new surgical method. Examination by a phoniatrist provided evidence of marked improvement of speech functions as compared with the previous von Langenbeck method. The results are preliminary, based on a small group of patients.

[Laparoscopic surgery of the colon]. / Laparoskopické operace kolon.

The authors describe their experience with laparoscopic operations of the colon. The first operation was made on February 1, 1993 and by the end of 1998 the authors implemented 115 of these operations on account of benign and malignant diseases. On the results of their work they provide evidence that laparoscopic operations of the colon meet all demands of radicality of surgery, while they ensure a greater postoperative comfort and more rapid convalescence of the patient.

[Unusual use of Ender rods in fractures of the femur]. / Neobvyklé pouzití Enderových prutu u nekterých zlomenin stehenní kosti.

In some supracondylar or multiple fractures of the femur the authors used in several instances osteosynthesis by means of Ender bars inserted from the condyles of the femur. This synthesis is not as stable as Küntscher nails or dynamic compression screw. Its advantage is however a minimal access area without exposing the site of fracture.

[Experience with laparoscopic cholecystectomy]. / Zkusenosti s laparoskopickou cholecystektomií.

We have been performing laparoscopic cholestystectomies since 1991. Despite of initial mistrust this method became unusual operation in most of surgical departments. This time is the only laparoscopic method reimbursed by health insurance. In the period of 30 months we performed 1,215 laparoscopic operations. The authors submit a review of the results in the period.

Use of two microsurgical flaps in one stage reconstructive surgery.

In the studied series of 167 free transfer two microsurgical flaps in one stage surgery were used in six cases. Two times latissimus + fibula in extensive defects of the tibia and soft tissues of the shin, two times forearm+forearm in isolated defects of the feet, in one case TRAMF + TRAMF for the reconstruction of both breasts and in one case of reconstruction of the penis and the urethra in a transsexual female to male. In this case three flaps were used--pedunculated rectus abdominis muscle and LAF for the reconstruction of the urethra and a sensitive flap from the forearm for the cover of both preceding flaps. The healing of all flaps was satisfactory and individual case records are described in detail and discussed.

[Laparoscopic resection of the sigmoid]. / Laparoskopická resekce sigmoidea.

The authors present their own experience with laparoscopic resection of the sigmoid colon. They discuss the technique, the postoperative course and the contribution of this new method.

[Initial experience with laparoscopic cholecystectomy]. / První zkusenosti s laparoskopickou cholecystektomií.

The authors discuss the technique and indications for laparoscopic cholecystectomy. n the course of four and a half months they operated, using this technique, 74 patients, in two patients they had to switch over to open cholecystectomy. They did not perform peroperative biligraphy. Complications occurred twice, once an injured ductus choledochus, once a biliary fistula. The mean period of hospitalization was 4.7 days. Advantages of the procedure are minimal surgical trauma, less intense postoperative pain, a shorter hospitalization period, rapid convalescence.

[Reconstruction of the breast after mastectomy]. / Rekonstrukce prsu po mastektomii.

The author analyzes some causes preventing the development of reconstruction of the breast after mastectomy, mentions the reasons for reconstruction and reflects on contraindications of this operation. He demonstrates a case of bilateral reconstruction of the breasts by means of a TRAM flap.

Bilateral breast reconstruction after mastectomy.

The authors discuss the development of breast reconstruction following mastectomy in Czechoslovakia and present their first case of bilateral reconstruction employing the technique of the TRAM flap. In addition, they explore the possibility of eliminating high-risk parenchyma during with contralateral reconstruction.

[Replantation of traumatically amputated parts of extremities-- indications and nomenclature]. / Replantace traumaticky amputovaných cástí koncetin--indikace a nomenklatura.

The authors submit a brief report on replantation activities during the past five years and discuss the problem of indications and terminology of traumatic amputations. The paper contains instruction regarding communication by telephone between the attending surgeon and a specialized microsurgical department. There are also instruction how to handle the amputated portion of the limb and how to transport the patient and the amputated portion of the limb. The authors discusses traditional procedures in replantation surgery on the basis of his own experience with 292 replantations or revascularizations.